Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004006.3(DMD):c.3469G>T (p.Glu1157Ter)	SNV Germline	ChrX:32454796	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA341016	rs_128625226	1 SubmittersRCV000011958
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)	SNV Germline	ChrX:32484931	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Single Submitter	CA341019	rs_128625227	2 SubmittersRCV000011960 RCV000517773
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)	SNV Germline	ChrX:32345978	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341022	rs_128625228	3 SubmittersRCV000011961
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)	SNV Germline	ChrX:31444621	Pathogenic	Duchenne muscular dystrophy Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273079	rs_128625229	7 SubmittersRCV000011962 RCV000150056 RCV001831560
NM_004006.3(DMD):c.9974+2T>A	SNV Germline	ChrX:31182736	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_2148333619	2 SubmittersRCV000011963
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)	SNV Germline	ChrX:31178784	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273073	rs_104894787	10 SubmittersRCV000011964 RCV000180033 RCV000710121 RCV001826457
NM_004006.3(DMD):c.6955C>T (p.Gln2319Ter)	SNV Germline	ChrX:31875331	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341025	rs_128625230	2 SubmittersRCV000011971
NM_004006.3(DMD):c.253C>T (p.Gln85Ter)	SNV Germline	ChrX:32844794	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA341028	rs_128626234	1 SubmittersRCV000011972
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)	SNV Germline	ChrX:32501833	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273097	rs_201366610	4 SubmittersRCV000011973 RCV000727553
NM_004006.3(DMD):c.2314G>T (p.Glu772Ter)	SNV Germline	ChrX:32501821	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA341031	rs_267606770	1 SubmittersRCV000011975
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)	SNV Germline	ChrX:32816565	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273103	rs_128626235	9 SubmittersRCV000011976 RCV000255815
NM_004006.3(DMD):c.161T>G (p.Leu54Arg)	SNV Germline	ChrX:32849753	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA341034	rs_128626231	1 SubmittersRCV000011979
NM_004006.3(DMD):c.3603+2T>G	SNV Germline	ChrX:32454660	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided		rs_146071084	1 SubmittersRCV000011980
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)	SNV Germline	ChrX:32545310	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341037	rs_128626232	3 SubmittersRCV000011984
NM_004006.3(DMD):c.10019G>A (p.Cys3340Tyr)	SNV Germline	ChrX:31180437	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA121414	rs_104894788	1 SubmittersRCV003151720
NM_004006.3(DMD):c.94-1G>T	SNV Germline	ChrX:32849821	Conflicting classifications of pathogenicity	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_863225016	4 SubmittersRCV000011988 RCV000990759 RCV001781232
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)	SNV Germline	ChrX:32849736	Pathogenic	Duchenne muscular dystrophy Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA341040	rs_128626233	4 SubmittersRCV000011990 RCV000517214 RCV001831561
NM_004006.3(DMD):c.724C>T (p.Gln242Ter)	SNV Germline	ChrX:32699219	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341043	rs_128626238	2 SubmittersRCV000011993
NM_004006.3(DMD):c.748G>T (p.Glu250Ter)	SNV Germline	ChrX:32699195	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA341049	rs_128626239	1 SubmittersRCV000011994
NM_004006.3(DMD):c.1438G>T (p.Gly480Ter)	SNV Germline	ChrX:32614347	Pathogenic	Intermediate muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA121417	rs_128626240	2 SubmittersRCV000011998 RCV003511974
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)	SNV Germline	ChrX:32595870	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341052	rs_128626241	4 SubmittersRCV000011999 RCV001781237
NM_004006.3(DMD):c.1952G>A (p.Trp651Ter)	SNV Germline	ChrX:32565742	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA273100	rs_128626242	2 SubmittersRCV000011996
NM_004006.3(DMD):c.2308A>T (p.Lys770Ter)	SNV Germline	ChrX:32501827	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341055	rs_128626243	2 SubmittersRCV000012001
NM_004006.3(DMD):c.2317A>G (p.Lys773Glu)	SNV Germline	ChrX:32501818	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA341058	rs_128626244	1 SubmittersRCV000012002
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)	SNV Germline	ChrX:32468539	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273094	rs_128626245	3 SubmittersRCV000012005 RCV000727595
NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)	SNV Germline	ChrX:32464674	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341061	rs_128626246	2 SubmittersRCV000012006
NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter)	SNV Germline	ChrX:32411772	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341064	rs_128626247	2 SubmittersRCV000012007
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)	SNV Germline	ChrX:32389605	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341067	rs_128626248	5 SubmittersRCV000012008 RCV000734422
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)	SNV Germline	ChrX:32342123	Pathogenic	Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA273091	rs_128626249	8 SubmittersRCV000012009 RCV000711463 RCV002354155
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)	SNV Germline	ChrX:32217062	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273088	rs_128626250	5 SubmittersRCV000012011 RCV001781242
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)	SNV Germline	ChrX:32216981	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273085	rs_128626251	3 SubmittersRCV000012012 RCV000150064
NM_004006.3(DMD):c.6790C>T (p.Gln2264Ter)	SNV Germline	ChrX:31929718	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341070	rs_128626252	2 SubmittersRCV000012014
NM_004006.3(DMD):c.7402G>T (p.Glu2468Ter)	SNV Germline	ChrX:31774100	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA341073	rs_128626253	1 SubmittersRCV000012017
NM_004006.3(DMD):c.9197C>A (p.Ser3066Ter)	SNV Germline	ChrX:31323625	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341076	rs_128626254	2 SubmittersRCV000012021
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)	SNV Germline	ChrX:31178751	Pathogenic	Duchenne muscular dystrophy Condition: not provided X-linked DMD-related dystrophinopathy Abnormality of the musculature Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency See cases	Criteria Provided Multiple Submitters No Conflicts	CA273070	rs_104894790	12 SubmittersRCV000012024 RCV000437942 RCV000985010 RCV001813973 RCV001835626 RCV002287331
NM_004006.3(DMD):c.10223+5G>T	SNV Germline	ChrX:31178664	Pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided		rs_2148290176	1 SubmittersRCV000012026
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)	SNV Germline	ChrX:31206663	Pathogenic	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273076	rs_104894797	10 SubmittersRCV000012033 RCV000150055 RCV000723477 RCV001831564
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)	SNV Germline	ChrX:32438372	Pathogenic	Becker muscular dystrophy Condition: not provided Duchenne muscular dystrophy Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA255776	rs_5030730	10 SubmittersRCV000012034 RCV000183404 RCV000201024 RCV003323357
NM_004006.3(DMD):c.9225-285A>G	SNV Germline	ChrX:31261301	Pathogenic	Becker muscular dystrophy Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA255779	rs_587776747	4 SubmittersRCV000012038 RCV000727267 RCV000803254
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)	SNV Germline	ChrX:31478330	Pathogenic	Duchenne muscular dystrophy Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA273082	rs_128627256	7 SubmittersRCV000012040 RCV000150057 RCV000515392
NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter)	SNV Germline	ChrX:32310214	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA341079	rs_128627257	2 SubmittersRCV000012042
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)	SNV Germline	ChrX:33211304	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Qualitative or quantitative defects of dystrophin Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA259713	rs_398122853	14 SubmittersRCV000022854 RCV000173322 RCV000183395 RCV000984166 RCV001264540 RCV001274389
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)	SNV Germline	ChrX:31180423	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266851	rs_398123827	6 SubmittersRCV000179687 RCV000518692 RCV001831824
NM_004006.3(DMD):c.10086+1G>A	SNV Germline	ChrX:31180369	Pathogenic	Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266854	rs_398123828	4 SubmittersRCV000080405 RCV001196295 RCV003512011
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)	SNV Germline	ChrX:31178721	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA266859	rs_398123832	10 SubmittersRCV000183403 RCV000180030 RCV000763209 RCV001814051
NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter)	SNV Germline	ChrX:31178700	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123833	1 SubmittersRCV002000139
NM_004006.3(DMD):c.10223+1G>A	SNV Germline	ChrX:31178668	Pathogenic	Condition: not provided Duchenne muscular dystrophy Intermediate muscular dystrophy Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA266865	rs_398123834	8 SubmittersRCV000080415 RCV001386712 RCV001797983 RCV003323388
NM_004006.3(DMD):c.10262+1G>A	SNV Germline	ChrX:31177931	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA222274	rs_145603325	9 SubmittersRCV000621654 RCV000723512 RCV000778896 RCV000990563 RCV001844031
NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile)	SNV Germline	ChrX:31147429	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA222280	rs_139492098	4 SubmittersRCV001043284 RCV001703995 RCV003162511 RCV004737189
NM_004006.3(DMD):c.10797+5G>A	SNV Germline	ChrX:31147270	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222283	rs_398123846	2 SubmittersRCV000593534 RCV001070379
NM_004006.3(DMD):c.10863C>T (p.Ser3621=)	SNV Germline	ChrX:31146349	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA222284	rs_398123847	3 SubmittersRCV000080433 RCV001396275 RCV001826723
NM_004006.3(DMD):c.10921+5G>A	SNV Germline	ChrX:31146286	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA222287	rs_398123848	3 SubmittersRCV000080434 RCV001086288 RCV001826724
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)	SNV Germline	ChrX:32644202	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266876	rs_398123852	3 SubmittersRCV000080439 RCV000174090
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)	SNV Germline	ChrX:32644177	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266879	rs_398123853	3 SubmittersRCV000080440 RCV003512012
NM_004006.3(DMD):c.1311T>G (p.Ala437=)	SNV Germline	ChrX:32644152	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222295	rs_398123855	5 SubmittersRCV000080442 RCV000723667 RCV001088936 RCV001831828 RCV002381399
NM_004006.3(DMD):c.1332-9A>G	SNV Germline	ChrX:32614462	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266883	rs_72468700	3 SubmittersRCV000174322 RCV003512013
NM_004006.3(DMD):c.1337A>G (p.His446Arg)	SNV Germline	ChrX:32614448	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency DMD-related disorder	Criteria Provided Conflicting Classifications	CA285523	rs_72468699	7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772
NM_004006.3(DMD):c.1482+1G>T	SNV Germline	ChrX:32614302	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266893	rs_398123862	3 SubmittersRCV000174327 RCV000821074
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)	SNV Germline	ChrX:32573834	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA266898	rs_398123865	6 SubmittersRCV000080461 RCV000174745 RCV004796006
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)	SNV Germline	ChrX:32573611	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA285532	rs_150199251	8 SubmittersRCV000235164 RCV000619753 RCV000723549 RCV001079116 RCV001831832 RCV004542773
NM_004006.3(DMD):c.1848C>A (p.Ser616=)	SNV Germline	ChrX:32565846	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA222307	rs_376024929	6 SubmittersRCV000723432 RCV001082698 RCV001826729 RCV002408607 RCV000080467
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)	SNV Germline	ChrX:32565704	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266909	rs_398123870	3 SubmittersRCV000080473 RCV001062806
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)	SNV Germline	ChrX:32545330	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA285538	rs_34563188	13 SubmittersRCV000080474 RCV000250691 RCV000711450 RCV000853044 RCV001084848 RCV001165928 RCV001826731
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)	SNV Germline	ChrX:32545295	Pathogenic	Condition: not provided Abnormality of the musculature Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266915	rs_398123872	3 SubmittersRCV000175181 RCV001814052 RCV003512014
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)	SNV Germline	ChrX:32501803	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266928	rs_398123883	3 SubmittersRCV000175441 RCV000723618
NM_004006.3(DMD):c.2380+1G>C	SNV Germline	ChrX:32501754	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266931	rs_398123884	2 SubmittersRCV000175444 RCV002515774
NM_004006.3(DMD):c.2381-1G>T	SNV Germline	ChrX:32491519	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266933	rs_398123887	2 SubmittersRCV000176072 RCV003231116
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)	SNV Germline	ChrX:32491480	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266934	rs_398123888	2 SubmittersRCV000176074 RCV001230051
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter)	SNV Unknown	ChrX:32491463	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123889	1 SubmittersRCV000990712
NM_004006.3(DMD):c.2457A>C (p.Leu819=)	SNV Germline	ChrX:32491442	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA222318	rs_72468680	12 SubmittersRCV000723550 RCV001082131 RCV001168044 RCV002444548 RCV001826736 RCV000225698
NM_004006.3(DMD):c.2490C>T (p.Asn830=)	SNV Germline	ChrX:32491409	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA222321	rs_72468679	13 SubmittersRCV000223516 RCV000558620 RCV000621463 RCV001080824 RCV001168043 RCV001831837
NM_004006.3(DMD):c.2518C>T (p.Gln840Ter)	SNV Germline	ChrX:32491381	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123892	1 SubmittersRCV002541118
NM_004006.3(DMD):c.2612A>C (p.Lys871Thr)	SNV Germline	ChrX:32491287	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222336	rs_398123899	4 SubmittersRCV000630620 RCV000615589 RCV001168042 RCV002433587
NM_004006.3(DMD):c.2622+1G>A	SNV Germline	ChrX:32491276	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266948	rs_398123901	2 SubmittersRCV000080514 RCV001053382
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)	SNV Germline	ChrX:32485072	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266949	rs_398123903	4 SubmittersRCV000176203 RCV000516840
NM_004006.3(DMD):c.2758C>T (p.Gln920Ter)	SNV Germline	ChrX:32484964	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_398123905	2 SubmittersRCV001067282
NM_004006.3(DMD):c.2804-1G>A	SNV Germline	ChrX:32472310	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266957	rs_398123909	2 SubmittersRCV000080525 RCV001050125
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)	SNV Germline	ChrX:32472286	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA222348	rs_199986217	9 SubmittersRCV000080527 RCV000618497 RCV000845504 RCV000990698 RCV001167433 RCV001831839
NM_004006.3(DMD):c.2828G>A (p.Arg943His)	SNV Germline	ChrX:32472285	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA222351	rs_398123911	4 SubmittersRCV000723655 RCV001512615 RCV001826739
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)	SNV Germline	ChrX:32472247	Pathogenic	Abnormality of the musculature Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_398123912	2 SubmittersRCV001814053 RCV001854419
NM_004006.3(DMD):c.2950-2A>G	SNV Unknown	ChrX:32468712	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123915	1 SubmittersRCV000990696
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter)	SNV Unknown	ChrX:32468601	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123919	1 SubmittersRCV000990693
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter)	SNV Unknown	ChrX:32468584	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123920	1 SubmittersRCV000990692
NM_004006.3(DMD):c.31+1G>T	SNV Germline	ChrX:33211281	Pathogenic	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA266984	rs_398123923	10 SubmittersRCV000080542 RCV000183396 RCV000808328 RCV001831841 RCV002321576
NM_004006.3(DMD):c.31+36949C>T	SNV Germline	ChrX:33174333	Conflicting classifications of pathogenicity	not specified Condition: not provided Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA222358	rs_182597890	5 SubmittersRCV000225710 RCV000723492 RCV001826742 RCV004537357
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)	SNV Germline	ChrX:32468509	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA266988	rs_398123929	8 SubmittersRCV000201197 RCV000627237 RCV000763210 RCV001526893
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)	SNV Germline	ChrX:32464645	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA222373	rs_398123931	7 SubmittersRCV001257055 RCV001826743 RCV002321577 RCV000080568
NM_004006.3(DMD):c.3276+1G>A	SNV Germline	ChrX:32464585	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266993	rs_398123934	2 SubmittersRCV000080572 RCV001854420
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)	SNV Germline	ChrX:32463576	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266994	rs_398123935	4 SubmittersRCV000176552 RCV000176553 RCV000627261
NM_004006.3(DMD):c.3419A>G (p.His1140Arg)	SNV Germline	ChrX:32463452	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222380	rs_201297190	6 SubmittersRCV000723384 RCV001081258 RCV001831843 RCV002453402
NM_004006.3(DMD):c.3432+1G>A	SNV Germline	ChrX:32463438	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267000	rs_398123937	4 SubmittersRCV000176554 RCV000176555
NM_004006.3(DMD):c.3432+3A>G	SNV Germline	ChrX:32463436	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267001	rs_398123938	3 SubmittersRCV000080581 RCV002514414
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)	SNV Germline	ChrX:32454685	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267006	rs_398123942	3 SubmittersRCV000080586 RCV000176666
NM_004006.3(DMD):c.3603+2T>A	SNV Germline	ChrX:32454660	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222388	rs_146071084	2 SubmittersRCV000176660 RCV000990681
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)	SNV Germline	ChrX:32411892	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA285566	rs_148781346	7 SubmittersRCV000235165 RCV000476221 RCV001703996 RCV002321578 RCV004542776
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)	SNV Germline	ChrX:32411868	Pathogenic	Condition: not provided not specified Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267016	rs_398123948	4 SubmittersRCV000080601 RCV001001210 RCV001854421
NM_004006.3(DMD):c.4233+2C>T	SNV Germline	ChrX:32411750	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency DMD-related disorder	Criteria Provided Conflicting Classifications	CA090924	rs_147474070	16 SubmittersRCV000080605 RCV000243182 RCV000467777 RCV000710122 RCV000853040 RCV001167970 RCV001831849 RCV004537359
NM_004006.3(DMD):c.434G>C (p.Arg145Pro)	SNV Germline	ChrX:32816564	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222397	rs_398123952	4 SubmittersRCV000080612 RCV001237927
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)	SNV Germline	ChrX:32389644	Pathogenic	Duchenne muscular dystrophy Condition: not provided Qualitative or quantitative defects of dystrophin Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA267021	rs_398123953	5 SubmittersRCV000201013 RCV000727564 RCV001174851 RCV001831852
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr)	SNV Germline	ChrX:32389598	Conflicting classifications of pathogenicity	not specified Dystrophin deficiency Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA222400	rs_398123956	4 SubmittersRCV000506548 RCV001273872 RCV001854422 RCV003144126
NM_004006.3(DMD):c.4518+5G>A	SNV Germline	ChrX:32389496	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA267031	rs_398123960	3 SubmittersRCV000555028 RCV000727552
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)	SNV Germline	ChrX:32380611	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B not specified Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA222407	rs_398123965	8 SubmittersRCV000333923 RCV000444690 RCV000630633 RCV001705750 RCV001831853 RCV004019555 RCV004737190
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)	SNV Germline	ChrX:32380580	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222410	rs_398123966	4 SubmittersRCV000080628 RCV000553672 RCV000723744 RCV004019556
NM_004006.3(DMD):c.489G>A (p.Trp163Ter)	SNV Germline	ChrX:32816509	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123970	1 SubmittersRCV003445436
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)	SNV Germline	ChrX:32365049	Pathogenic	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA267046	rs_398123973	9 SubmittersRCV000516386 RCV000545335 RCV001831854 RCV003323389
NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter)	SNV Germline	ChrX:32364602	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398123980	1 SubmittersRCV001253506
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)	SNV Germline	ChrX:32362932	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA222423	rs_200887855	8 SubmittersRCV000723693 RCV001081480 RCV001831856 RCV002336233 RCV000080645
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)	SNV Germline	ChrX:32362931	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy DMD-related disorder not specified	Criteria Provided Conflicting Classifications	CA285577	rs_34102501	15 SubmittersRCV000514541 RCV000621386 RCV001085478 RCV001167365 RCV001826752 RCV004537360 RCV000212487
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)	SNV Germline	ChrX:32362826	Pathogenic	Condition: not provided Duchenne muscular dystrophy not specified Dilated cardiomyopathy 3B Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA267055	rs_398123981	7 SubmittersRCV000080648 RCV000177912 RCV001000065 RCV001198765 RCV001826753
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)	SNV Germline	ChrX:32362825	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy not specified Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222426	rs_398123982	6 SubmittersRCV000585494 RCV000794522 RCV001002261 RCV001826754 RCV004017393
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)	SNV Germline	ChrX:32348501	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_398123990	3 SubmittersRCV000711461 RCV002514415
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)	SNV Germline	ChrX:32345999	Pathogenic	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA267064	rs_1064325	9 SubmittersRCV000080659 RCV000178001 RCV001831858 RCV004796007
NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)	SNV Germline	ChrX:32345975	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267067	rs_398123991	2 SubmittersRCV000080660 RCV001854424
NM_004006.3(DMD):c.5586+9G>A	SNV Germline	ChrX:32345934	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy DMD-related disorder not specified	Criteria Provided Conflicting Classifications	CA222436	rs_200025478	8 SubmittersRCV000361961 RCV000463221 RCV001811372 RCV001831859 RCV004542777 RCV000080664
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)	SNV Germline	ChrX:32343215	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222437	rs_398123994	5 SubmittersRCV000080667 RCV000723644 RCV001088624 RCV001831860 RCV002345394
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter)	SNV Germline	ChrX:32342249	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267077	rs_398123997	2 SubmittersRCV000201201
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)	SNV Germline	ChrX:32342195	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA222441	rs_181849614	6 SubmittersRCV000080673 RCV001086404 RCV001169757 RCV001831862 RCV002354277 RCV004542778
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)	SNV Germline	ChrX:32809559	Pathogenic	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA267083	rs_398123999	8 SubmittersRCV000179875 RCV000338327 RCV001274385 RCV002498417
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)	SNV Germline	ChrX:32310215	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA147837	rs_147927593	7 SubmittersRCV000622085 RCV000711464 RCV001081041 RCV001835677 RCV002498418
NM_004006.3(DMD):c.606C>T (p.Ile202=)	SNV Germline	ChrX:32809536	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA222444	rs_138335295	5 SubmittersRCV000080681 RCV001082735 RCV001831863 RCV002354278 RCV003323390
NM_004006.3(DMD):c.6195T>C (p.Ser2065=)	SNV Germline	ChrX:32287624	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA222450	rs_398124006	3 SubmittersRCV000080686 RCV001444484 RCV001831864
NM_004006.3(DMD):c.6226G>T (p.Glu2076Ter)	SNV Germline	ChrX:32287593	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398124007	1 SubmittersRCV003622828
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)	SNV Germline	ChrX:32287536	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_398124008	5 SubmittersRCV000809481 RCV001093403
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)	SNV Germline	ChrX:32217034	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy not specified Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA285586	rs_142807436	10 SubmittersRCV000723715 RCV000853038 RCV001167894 RCV001083222 RCV001835678 RCV002265600 RCV002354279 RCV004537361
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)	SNV Germline	ChrX:31968482	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA222478	rs_377080659	6 SubmittersRCV000294282 RCV000617199 RCV001086507 RCV001831866 RCV000080735
NM_004006.3(DMD):c.6763-2A>G	SNV Germline	ChrX:31929747	Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts		rs_398124033	3 SubmittersRCV001780943 RCV002034586 RCV002503270
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)	SNV Germline	ChrX:31929680	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA285595	rs_72466595	13 SubmittersRCV000080740 RCV000466055 RCV001167299 RCV001528581 RCV001831867 RCV002362727 RCV004542779
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)	SNV Germline	ChrX:31875270	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA285598	rs_398124041	7 SubmittersRCV000212489 RCV000544107 RCV001508956
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)	SNV Germline	ChrX:31836735	Conflicting classifications of pathogenicity	Cardiovascular phenotype Becker muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Hereditary skeletal muscle disorder not specified	Criteria Provided Conflicting Classifications	CA147852	rs_72466590	16 SubmittersRCV000246044 RCV000509543 RCV001093402 RCV000990621 RCV001167295 RCV004776429 RCV000080750
NM_004006.3(DMD):c.7309+1G>A	SNV Germline	ChrX:31819974	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267133	rs_398124044	3 SubmittersRCV000080753 RCV001389468
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)	SNV Germline	ChrX:31774179	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA222490	rs_201919981	6 SubmittersRCV000723546 RCV001088599 RCV001826759 RCV002381400 RCV000080757
NM_004006.3(DMD):c.7542+10A>G	SNV Germline	ChrX:31773950	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA222493	rs_398124046	2 SubmittersRCV000080759 RCV001440478
NM_004006.3(DMD):c.7542+7G>A	SNV Germline	ChrX:31773953	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA222494	rs_398124047	2 SubmittersRCV000080761 RCV001088644
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)	SNV Germline	ChrX:31729638	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Condition: not provided Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA147856	rs_368803197	9 SubmittersRCV000080764 RCV001080502 RCV001169691 RCV001826760 RCV002274910 RCV002390235 RCV004542780
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)	SNV Germline	ChrX:31729634	Pathogenic	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA267135	rs_398124050	8 SubmittersRCV000711467 RCV000797219 RCV001835679
NM_004006.3(DMD):c.7672C>T (p.Gln2558Ter)	SNV Germline	ChrX:31679575	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA222496	rs_398124051	1 SubmittersRCV000539749
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)	SNV Germline	ChrX:31679476	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267143	rs_398124055	2 SubmittersRCV000080771 RCV001034930
NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)	SNV Germline	ChrX:31658123	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267150	rs_398124058	2 SubmittersRCV000080774 RCV001854425
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)	SNV Germline	ChrX:31507416	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Duchenne muscular dystrophy DMD-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA222504	rs_373832446	7 SubmittersRCV000621258 RCV001000603 RCV001079634 RCV004737191 RCV000080790
NM_004006.3(DMD):c.8358G>A (p.Trp2786Ter)	SNV Germline	ChrX:31507313	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_398124068	1 SubmittersRCV002885035
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)	SNV Germline	ChrX:31496936	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222513	rs_398124071	5 SubmittersRCV000630546 RCV001826763 RCV002504994 RCV003144127 RCV003162512
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter)	SNV Germline	ChrX:31496892	Pathogenic	Duchenne muscular dystrophy Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA267163	rs_398124072	2 SubmittersRCV000201168 RCV003389237
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)	SNV Germline	ChrX:31479043	Pathogenic	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy DMD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA267169	rs_398124074	9 SubmittersRCV000080803 RCV000179204 RCV001831875 RCV004528291
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)	SNV Germline	ChrX:31478276	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA222518	rs_116283249	7 SubmittersRCV000617868 RCV000723438 RCV001087138 RCV001167231 RCV001826765 RCV004529846
NM_004006.3(DMD):c.8852G>A (p.Arg2951His)	SNV Germline	ChrX:31478191	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA222521	rs_72466567	4 SubmittersRCV001089143 RCV001831877 RCV004019558 RCV000080814
NM_004006.3(DMD):c.8893G>A (p.Asp2965Asn)	SNV Germline	ChrX:31478150	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA222524	rs_398124077	3 SubmittersRCV002514417 RCV000080815
NM_004006.3(DMD):c.8938-3C>G	SNV Germline	ChrX:31444630	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_398124079	2 SubmittersRCV001977664 RCV003146435
NM_004006.3(DMD):c.9225-647A>G	SNV Germline	ChrX:31261663	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA267181	rs_398124091	5 SubmittersRCV000080835 RCV000179616 RCV001270853
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)	SNV Germline	ChrX:31223071	Pathogenic	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA267182	rs_398124092	6 SubmittersRCV000179641 RCV000254753 RCV001826766
NM_004006.3(DMD):c.9361+1G>A	SNV Germline	ChrX:31223046	Pathogenic	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA267188	rs_398124094	5 SubmittersRCV000080839 RCV000797326 RCV001831880
NM_004006.3(DMD):c.9361+1G>C	SNV Germline	ChrX:31223046	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267189	rs_398124094	3 SubmittersRCV000179638 RCV001854426
NM_004006.3(DMD):c.9564-1G>A	SNV Germline	ChrX:31206668	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267190	rs_398124096	2 SubmittersRCV000080843 RCV002514418
NM_004006.3(DMD):c.961-5831C>T	SNV Germline	ChrX:32650983	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267191	rs_398124099	4 SubmittersRCV000080848 RCV000531926 RCV002247479
NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)	SNV Germline	ChrX:31182861	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_398124104	2 SubmittersRCV001782066 RCV002544242
NM_004006.3(DMD):c.9896A>G (p.His3299Arg)	SNV Germline	ChrX:31182816	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_398124107	2 SubmittersRCV000705818 RCV001200315
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	SNV Germline	ChrX:32573618	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy not specified Muscular dystrophy Exertional myalgia, muscle stiffness and myoglobinuria Dilated cardiomyopathy 3B Cardiovascular phenotype Qualitative or quantitative defects of dystrophin Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA211406	rs_370644567	14 SubmittersRCV000516302 RCV000630575 RCV000223816 RCV004786398 RCV000148464 RCV000984165 RCV002408653 RCV003103987 RCV000984164
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)	SNV Germline	ChrX:32644145	Conflicting classifications of pathogenicity	Becker muscular dystrophy not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA272861	rs_189143447	11 SubmittersRCV000148465 RCV000254538 RCV000183380 RCV000990731 RCV002381455 RCV001276610
NM_004006.3(DMD):c.1812+1G>A	SNV Germline	ChrX:32573529	Pathogenic/Likely pathogenic	Becker muscular dystrophy Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Qualitative or quantitative defects of dystrophin See cases	Criteria Provided Multiple Submitters No Conflicts	CA273064	rs_373286166	15 SubmittersRCV000149882 RCV000521440 RCV000201160 RCV000984163 RCV002483296 RCV001826801 RCV003155089 RCV004797784
NM_001005242.3(PKP2):c.1379-2019C>T	SNV Germline	Chr12:32843224	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 9 Primary dilated cardiomyopathy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Brugada syndrome Becker muscular dystrophy Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA010572	rs_149930872	12 SubmittersRCV000155807 RCV000172581 RCV000528781 RCV000577930 RCV000577936 RCV000578052 RCV000578088 RCV000577994 RCV000619186 RCV000771870
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)	SNV Germline	ChrX:31820041	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA233490	rs_139395045	5 SubmittersRCV000621856 RCV001079174 RCV001831946 RCV000723951
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)	SNV Germline	ChrX:32484967	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA273313	rs_727503850	3 SubmittersRCV000152963 RCV001388690
NM_004006.3(DMD):c.295A>G (p.Ile99Val)	SNV Germline	ChrX:32823357	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA295602	rs_149428656	8 SubmittersRCV000212485 RCV000515266 RCV000630541 RCV000723910 RCV002433667 RCV004551317
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)	SNV Germline	ChrX:31478363	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA273299	rs_727503802	2 SubmittersRCV000152766 RCV001850083
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)	SNV Germline	ChrX:31968501	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA233495	rs_727503815	5 SubmittersRCV000152811 RCV000630533 RCV002362803
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	SNV Germline	ChrX:32697947	Pathogenic/Likely pathogenic	Condition: not provided Becker muscular dystrophy DMD-related disorder Qualitative or quantitative defects of dystrophin Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA273321	rs_727503864	7 SubmittersRCV000153012 RCV002470775 RCV004724933 RCV003226216 RCV001041065
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)	SNV Germline	ChrX:32365035	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA295588	rs_727503828	10 SubmittersRCV000212486 RCV001088504 RCV000723857 RCV002336308
NM_004006.3(DMD):c.2199C>T (p.Ser733=)	SNV Germline	ChrX:32518101	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Dilated cardiomyopathy 3B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA233707	rs_149882431	8 SubmittersRCV000250787 RCV000630599 RCV001835693 RCV001168816 RCV001719947 RCV002426728
NM_004006.3(DMD):c.618A>G (p.Gln206=)	SNV Germline	ChrX:32809524	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA233719	rs_727503865	3 SubmittersRCV000153014 RCV001083914 RCV002354355
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)	SNV Germline	ChrX:32343172	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided DMD-related disorder	Criteria Provided Conflicting Classifications	CA245528	rs_201302282	9 SubmittersRCV000157167 RCV000222591 RCV000459519 RCV000617904 RCV001719984 RCV004737245
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)	SNV Germline	ChrX:32545210	Conflicting classifications of pathogenicity	Condition: not provided not specified DMD-related disorder Duchenne muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA236340	rs_781015830	7 SubmittersRCV000171433 RCV000259130 RCV004539577 RCV001239735 RCV002415727 RCV001168818
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)	SNV Germline	ChrX:32645020	Pathogenic	Condition: not provided Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA274935	rs_794726993	5 SubmittersRCV000173785 RCV000984160 RCV000984161 RCV000984162 RCV001826873
NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)	SNV Germline	ChrX:32644177	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA274957	rs_398123853	2 SubmittersRCV000174085 RCV002470790
NM_004006.3(DMD):c.1150-2A>G	SNV Germline	ChrX:32644315	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA274958	rs_794727030	2 SubmittersRCV000174087 RCV002517670
NM_004006.3(DMD):c.1150-4T>A	SNV Germline	ChrX:32644317	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA239556	rs_794727031	5 SubmittersRCV000174091 RCV000724107 RCV001451060 RCV001826874 RCV002453608
NM_004006.3(DMD):c.1463G>T (p.Arg488Leu)	SNV Germline	ChrX:32614322	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA239844	rs_794727065	2 SubmittersRCV000174328 RCV001852123
NM_004006.3(DMD):c.1704+1G>A	SNV Germline	ChrX:32573744	Pathogenic	Condition: not provided not specified Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275009	rs_794727123	3 SubmittersRCV000174742 RCV000506230 RCV001210378
NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)	SNV Germline	ChrX:32545288	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA240885	rs_367769606	3 SubmittersRCV000175177 RCV001852142 RCV002485135
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)	SNV Germline	ChrX:32545231	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 3B Cardiovascular phenotype Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA201333	rs_202008454	8 SubmittersRCV000175178 RCV000630637 RCV000853043 RCV001168819 RCV002415750 RCV001762398 RCV001826882
NM_004006.3(DMD):c.78T>G (p.Asn26Lys)	SNV Germline	ChrX:33020154	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA241527	rs_794727272	4 SubmittersRCV000175769 RCV003335178
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)	SNV Germline	ChrX:32491360	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA241939	rs_138145424	5 SubmittersRCV000223116 RCV000620846 RCV000685504 RCV000724731
NM_004006.3(DMD):c.2804-2A>T	SNV Germline	ChrX:32472311	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275111	rs_794727357	2 SubmittersRCV000176297 RCV003512021
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)	SNV Germline	ChrX:32464593	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency DMD-related disorder	Criteria Provided Conflicting Classifications	CA242443	rs_747239076	4 SubmittersRCV000176480 RCV001257067 RCV001832009 RCV004537401
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)	SNV Germline	ChrX:32448546	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA242774	rs_369971712	5 SubmittersRCV000176745 RCV000724117 RCV001416297 RCV001826895 RCV002345604
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)	SNV Germline	ChrX:32441263	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275150	rs_794727463	2 SubmittersRCV000176871 RCV001852181
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)	SNV Germline	ChrX:32441285	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA242962	rs_760733415	10 SubmittersRCV000306607 RCV000724165 RCV001080626 RCV001826896 RCV002362899 RCV004998375
NM_004006.3(DMD):c.94-3C>T	SNV Germline	ChrX:32849823	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA243294	rs_373907950	6 SubmittersRCV000724503 RCV001088022 RCV001271685 RCV002444708 RCV004539649
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)	SNV Germline	ChrX:32345981	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245012	rs_141261536	4 SubmittersRCV000630489 RCV000724575 RCV002345620
NM_004006.3(DMD):c.5481G>A (p.Leu1827=)	SNV Germline	ChrX:32346048	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245015	rs_794727612	3 SubmittersRCV000178003 RCV001466851 RCV004992052
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)	SNV Germline	ChrX:32343150	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary familial hypertrophic cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA202875	rs_145266970	7 SubmittersRCV000178437 RCV000863613 RCV000853118 RCV001084570 RCV002345621
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)	SNV Germline	ChrX:32342154	Pathogenic	Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA346882	rs_794727666	4 SubmittersRCV000178462 RCV002250590 RCV002517735
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)	SNV Germline	ChrX:31968382	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Primary familial dilated cardiomyopathy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA202935	rs_149322279	16 SubmittersRCV000178576 RCV000618624 RCV000786293 RCV001081226 RCV000845549 RCV001826906 RCV004539669
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)	SNV Germline	ChrX:31836739	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245865	rs_202090289	4 SubmittersRCV000178692 RCV001088379 RCV001826909 RCV004020130
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)	SNV Germline	ChrX:31729633	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246329	rs_764127932	4 SubmittersRCV000179108 RCV001084508 RCV002390438
NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala)	SNV Germline	ChrX:31679500	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA246359	rs_773656507	3 SubmittersRCV000179127 RCV000630500 RCV001826914
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)	SNV Germline	ChrX:31658029	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246388	rs_144103124	5 SubmittersRCV000724591 RCV001086337 RCV001833086 RCV002408775
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)	SNV Germline	ChrX:31627743	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA246410	rs_750640802	4 SubmittersRCV000179162 RCV000723963 RCV001079559 RCV001833087
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)	SNV Germline	ChrX:31627814	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy not specified DMD-related disorder	Criteria Provided Conflicting Classifications	CA246413	rs_144518527	7 SubmittersRCV000619660 RCV000724640 RCV001085311 RCV001833088 RCV003330538 RCV004537481
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)	SNV Germline	ChrX:31507445	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA246434	rs_746514008	7 SubmittersRCV000245458 RCV000247407 RCV000487873 RCV001085409 RCV001826915
NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)	SNV Germline	ChrX:31478995	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA275322	rs_201361100	2 SubmittersRCV000179209 RCV000179207
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)	SNV Germline	ChrX:31323624	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246901	rs_753594128	5 SubmittersRCV000179601 RCV001078477 RCV001826919 RCV003165375
NM_004006.3(DMD):c.9564-5A>G	SNV Germline	ChrX:31206672	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246969	rs_201390145	6 SubmittersRCV000313672 RCV000723885 RCV001082624 RCV001833091 RCV002372102
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)	SNV Germline	ChrX:31178764	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247408	rs_755438733	4 SubmittersRCV000180034 RCV001078707 RCV001826920 RCV002453640
NM_004006.3(DMD):c.10554-2A>G	SNV Germline	ChrX:31147520	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275409	rs_794727890	2 SubmittersRCV000180065 RCV002515288
NM_004006.3(DMD):c.733A>G (p.Ile245Val)	SNV Germline	ChrX:32699210	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247616	rs_140510985	6 SubmittersRCV000630494 RCV000659150 RCV001833095 RCV002381581
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)	SNV Germline	ChrX:31444591	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA308370	rs_201691420	6 SubmittersRCV000183401 RCV000620404 RCV000630589 RCV001165645 RCV001827984
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)	SNV Germline	ChrX:32310147	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308410	rs_367702968	4 SubmittersRCV000230029 RCV000730253 RCV002354490
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)	SNV Germline	ChrX:32310266	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308358	rs_148135406	6 SubmittersRCV000405759 RCV000726721 RCV001078708 RCV001826926 RCV002354487
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)	SNV Germline	ChrX:32342153	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA308406	rs_755477994	5 SubmittersRCV000183418 RCV000766087 RCV001057446 RCV004537536
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)	SNV Germline	ChrX:32343198	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308400	rs_137898199	4 SubmittersRCV000183416 RCV000694678 RCV001273863 RCV002345641
NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)	SNV Germline	ChrX:32362883	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308397	rs_376234802	4 SubmittersRCV000183414 RCV000527743 RCV004020212
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)	SNV Germline	ChrX:32362910	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiovascular phenotype Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Condition: not provided DMD-related disorder	Criteria Provided Conflicting Classifications	CA308394	rs_147904018	8 SubmittersRCV000396354 RCV000469017 RCV000617311 RCV001835711 RCV002492828 RCV003436975 RCV004539710
NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu)	SNV Germline	ChrX:32364639	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308355	rs_763028318	3 SubmittersRCV000183389 RCV001063145 RCV002336465
NM_004006.3(DMD):c.4973G>A (p.Ser1658Asn)	SNV Germline	ChrX:32365072	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA308352	rs_794728999	2 SubmittersRCV000183388 RCV001852353
NM_004006.3(DMD):c.3937A>G (p.Met1313Val)	SNV Germline	ChrX:32438375	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA308391	rs_794729003	5 SubmittersRCV000183411 RCV001827986 RCV001852354
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)	SNV Germline	ChrX:32463545	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308423	rs_200596739	9 SubmittersRCV000183426 RCV000513147 RCV001083491 RCV001165857 RCV002321731
NM_004006.3(DMD):c.3191T>C (p.Met1064Thr)	SNV Germline	ChrX:32464671	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_140106769	4 SubmittersRCV000731035 RCV001241260 RCV001827985 RCV002321730
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro)	SNV Germline	ChrX:32468632	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308385	rs_766325631	4 SubmittersRCV000183409 RCV000766849 RCV001462983 RCV002433816
NM_004006.3(DMD):c.2824A>G (p.Met942Val)	SNV Germline	ChrX:32472289	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308343	rs_371648742	6 SubmittersRCV000183385 RCV000726566 RCV001084984 RCV001826925 RCV002433814
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)	SNV Germline	ChrX:32518027	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Familial restrictive cardiomyopathy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA308419	rs_750526692	8 SubmittersRCV000555681 RCV001002415 RCV000853164 RCV001168047 RCV001833105 RCV001852355 RCV002444741 RCV004539712
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp)	SNV Germline	ChrX:32518049	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308416	rs_373475448	4 SubmittersRCV000183422 RCV000208236 RCV001464816 RCV004020213
NM_004006.3(DMD):c.1823C>T (p.Ala608Val)	SNV Germline	ChrX:32565871	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308379	rs_189896732	4 SubmittersRCV000183407 RCV001514204 RCV002408806
NM_004006.3(DMD):c.932A>G (p.Asp311Gly)	SNV Germline	ChrX:32697898	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA308376	rs_760932600	5 SubmittersRCV000183405 RCV001088868 RCV003165401 RCV004537535
NM_004006.3(DMD):c.6614+3310G>T	SNV Germline	ChrX:31965029	Likely pathogenic	Duchenne muscular dystrophy Condition: not provided Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA347360	rs_797045526	4 SubmittersRCV000192688 RCV000727646 RCV004700578
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)	SNV Germline	ChrX:32438312	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347462	rs_146880270	2 SubmittersRCV000196412
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter)	SNV Germline	ChrX:31169492	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347545	rs_863224977	1 SubmittersRCV000201119
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter)	SNV Germline	ChrX:31169584	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347580	rs_863224976	1 SubmittersRCV000201187
NM_004006.3(DMD):c.10223+1G>C	SNV Germline	ChrX:31178668	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347551	rs_398123834	2 SubmittersRCV000201125
NM_004006.3(DMD):c.8390+2T>C	SNV Germline	ChrX:31507279	Pathogenic	Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Single Submitter	CA347514	rs_863225013	2 SubmittersRCV000201084 RCV001271297
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)	SNV Germline	ChrX:31507314	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347478	rs_863225012	4 SubmittersRCV000201027 RCV001781603 RCV001828037
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)	SNV Germline	ChrX:31627852	Pathogenic	Duchenne muscular dystrophy Condition: not provided Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA347572	rs_863225011	6 SubmittersRCV000201174 RCV000348940 RCV001192549
NM_004006.3(DMD):c.8027+2T>A	SNV Germline	ChrX:31657988	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Qualitative or quantitative defects of dystrophin Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347521	rs_863225010	3 SubmittersRCV000201094 RCV001199880 RCV003238735
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter)	SNV Germline	ChrX:31679430	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347476	rs_863225009	2 SubmittersRCV000201020
NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter)	SNV Germline	ChrX:31679492	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347558	rs_762394978	2 SubmittersRCV000201144
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)	SNV Germline	ChrX:31836813	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347515	rs_863225008	2 SubmittersRCV000201085 RCV000727337
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)	SNV Germline	ChrX:32342105	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347552	rs_863225005	4 SubmittersRCV000201134 RCV000733885
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter)	SNV Germline	ChrX:32343232	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347542	rs_863225004	2 SubmittersRCV000201117
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)	SNV Germline	ChrX:32346068	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347548	rs_863225002	1 SubmittersRCV000201122
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)	SNV Germline	ChrX:32348504	Pathogenic	not specified Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347488	rs_777864641	3 SubmittersRCV000506941 RCV000201039 RCV003317147
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)	SNV Germline	ChrX:32364605	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347522	rs_863225001	4 SubmittersRCV000201095 RCV000760389 RCV003468913
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)	SNV Germline	ChrX:32380626	Pathogenic	Duchenne muscular dystrophy Condition: not provided Qualitative or quantitative defects of dystrophin Cardiovascular phenotype Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA347565	rs_863224999	9 SubmittersRCV000201158 RCV000255348 RCV001193218 RCV002336547 RCV003997034
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)	SNV Germline	ChrX:32386378	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347530	rs_863224998	2 SubmittersRCV000201102 RCV000726911
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)	SNV Germline	ChrX:32390175	Pathogenic	Duchenne muscular dystrophy not specified	Criteria Provided Multiple Submitters No Conflicts	CA347511	rs_863224997	3 SubmittersRCV000201081 RCV000508425
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter)	SNV Germline	ChrX:32463444	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347507	rs_863224993	2 SubmittersRCV000201074 RCV001781596
NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)	SNV Germline	ChrX:32468669	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347538	rs_863224992	1 SubmittersRCV000201111
NM_004006.3(DMD):c.2804-2A>C	SNV Germline	ChrX:32472311	Pathogenic	Duchenne muscular dystrophy Condition: not provided Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA347584	rs_794727357	4 SubmittersRCV000201191 RCV001781594 RCV002222440
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)	SNV Germline	ChrX:32484925	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347495	rs_756949497	4 SubmittersRCV000201047 RCV000726064
NM_004006.3(DMD):c.2623-3C>G	SNV Germline	ChrX:32485102	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Qualitative or quantitative defects of dystrophin Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347541	rs_863224988	4 SubmittersRCV000201114 RCV001293467 RCV000727448
NM_004006.3(DMD):c.2611A>T (p.Lys871Ter)	SNV Germline	ChrX:32491288	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347479	rs_863224987	1 SubmittersRCV000201029
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter)	SNV Germline	ChrX:32491492	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347577	rs_863224986	2 SubmittersRCV000201181
NM_004006.3(DMD):c.2368C>T (p.Gln790Ter)	SNV Germline	ChrX:32501767	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347527	rs_762860653	2 SubmittersRCV000201099
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)	SNV Germline	ChrX:32518085	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347467	rs_863224985	3 SubmittersRCV000201007 RCV001781590
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)	SNV Germline	ChrX:32573766	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347533	rs_863224984	2 SubmittersRCV000201104 RCV001589082
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)	SNV Germline	ChrX:32573786	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347473	rs_863224983	3 SubmittersRCV000201018 RCV000729491
NM_004006.3(DMD):c.1483-1G>C	SNV Germline	ChrX:32595877	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347502	rs_863224982	2 SubmittersRCV000518069 RCV001853223
NM_004006.3(DMD):c.1388G>A (p.Trp463Ter)	SNV Germline	ChrX:32614397	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347470	rs_863224981	1 SubmittersRCV000201011
NM_004006.3(DMD):c.1331+1G>A	SNV Germline	ChrX:32644131	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347557	rs_863224980	1 SubmittersRCV000201140
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter)	SNV Germline	ChrX:32644139	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347498	rs_863224979	2 SubmittersRCV000201050
NM_004006.3(DMD):c.358-2A>G	SNV Germline	ChrX:32816642	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347561	rs_863224996	2 SubmittersRCV000201147
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)	SNV Germline	ChrX:32823297	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347503	rs_863224995	5 SubmittersRCV000201060 RCV000732472
NM_004006.3(DMD):c.265-2A>G	SNV Germline	ChrX:32823389	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA347571	rs_863224989	1 SubmittersRCV000201171
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)	SNV Germline	ChrX:31478192	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA070630	rs_760516307	4 SubmittersRCV000208509 RCV000315245 RCV002444834 RCV002517392
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)	SNV Germline	ChrX:32441209	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy not specified Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA076798	rs_750349613	4 SubmittersRCV000208075 RCV000213162 RCV001513398 RCV002354585
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)	SNV Unknown	ChrX:32699144	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10575988	rs_878854383	2 SubmittersRCV000232694 RCV000990743
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)	SNV Germline	ChrX:31968451	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	No Assertion Criteria Provided	CA358809	rs_779739455	2 SubmittersRCV000210931 RCV000582216
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)	SNV Germline	ChrX:32518055	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379595	rs_771803281	7 SubmittersRCV000211455 RCV000374144 RCV001397433 RCV000725716 RCV001828052 RCV004992086
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)	SNV Germline	ChrX:31178669	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377674	rs_777510517	8 SubmittersRCV000213994 RCV000470937 RCV001528853 RCV001828075 RCV004992094
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)	SNV Germline	ChrX:31479069	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378030	rs_181284440	3 SubmittersRCV000222491 RCV000866461
NM_004006.3(DMD):c.6118-13T>G	SNV Germline	ChrX:32287714	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10577164	rs_750033728	3 SubmittersRCV000215170 RCV002057166
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)	SNV Germline	ChrX:32346053	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378674	rs_140913030	8 SubmittersRCV000218962 RCV001087654 RCV000756029 RCV002347839 RCV004532754
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)	SNV Germline	ChrX:32362905	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378741	rs_144717862	3 SubmittersRCV000215284 RCV000841689 RCV001853445
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)	SNV Germline	ChrX:32441296	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379185	rs_151150099	5 SubmittersRCV000220066 RCV000630519 RCV001610532 RCV002354606
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)	SNV Germline	ChrX:32468578	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379363	rs_146384458	4 SubmittersRCV000214214 RCV000727244 RCV001078952 RCV002319463
NM_004006.3(DMD):c.2950-9G>T	SNV Germline	ChrX:32468719	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379385	rs_772822759	2 SubmittersRCV000216173 RCV001437854
NM_004006.3(DMD):c.298G>A (p.Val100Ile)	SNV Germline	ChrX:32823354	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380189	rs_779099343	5 SubmittersRCV000219870 RCV001828073 RCV002433934 RCV002478767 RCV002517540
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)	SNV Germline	ChrX:32849769	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380250	rs_147548697	7 SubmittersRCV000214960 RCV001085127 RCV000732782 RCV001833181 RCV002390569
NM_004006.3(DMD):c.32-14A>G	SNV Germline	ChrX:33020214	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380278	rs_367757761	3 SubmittersRCV000217758 RCV002057165
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)	SNV Germline	ChrX:31206651	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10377775	rs_181517869	5 SubmittersRCV000229457 RCV000764875 RCV001828115 RCV001854834 RCV002472977
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)	SNV Germline	ChrX:31223083	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377830	rs_201718067	5 SubmittersRCV000382296 RCV001086428 RCV001828114 RCV002372274
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)	SNV Germline	ChrX:31774181	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378289	rs_146817002	5 SubmittersRCV000657863 RCV001085331 RCV002378993
NM_004006.3(DMD):c.7200+9G>A	SNV Germline	ChrX:31836709	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378325	rs_748786108	3 SubmittersRCV000290546 RCV001412524 RCV001833245
NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)	SNV Germline	ChrX:32346023	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA10583945	rs_770845480	2 SubmittersRCV000229638
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)	SNV Germline	ChrX:32365175	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10583946	rs_762250680	3 SubmittersRCV000229831 RCV000627236
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)	SNV Germline	ChrX:32438361	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B not specified Cardiovascular phenotype Condition: not provided Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379147	rs_199643655	9 SubmittersRCV000284261 RCV000339725 RCV000621050 RCV000725448 RCV001828111 RCV001084784
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly)	SNV Germline	ChrX:32491426	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10379513	rs_769988372	4 SubmittersRCV000228776 RCV001828110 RCV002444899 RCV003488488
NM_004006.3(DMD):c.1705-1G>T	SNV Germline	ChrX:32573638	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10583947	rs_878854619	2 SubmittersRCV000231131 RCV003488487
NM_004006.3(DMD):c.1603-4C>A	SNV Germline	ChrX:32573850	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379780	rs_377223643	4 SubmittersRCV000731252 RCV001080237 RCV001828108 RCV002399824
NM_004006.3(DMD):c.1504C>T (p.Gln502Ter)	SNV Germline	ChrX:32595855	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA10583948	rs_878854618	1 SubmittersRCV000230747
NM_004006.3(DMD):c.1159A>G (p.Met387Val)	SNV Germline	ChrX:32644304	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379951	rs_770202940	5 SubmittersRCV000229822 RCV000404721 RCV000725621 RCV003165632
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)	SNV Germline	ChrX:31478117	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377964	rs_142128738	5 SubmittersRCV000247702 RCV000792624 RCV001165646 RCV001828141 RCV003343731
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)	SNV Germline	ChrX:31478196	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377978	rs_185664502	5 SubmittersRCV000242908 RCV000525821 RCV000727340 RCV001828140 RCV004992135
NM_004006.3(DMD):c.960+9A>G	SNV Germline	ChrX:32697861	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10587388	rs_886038537	4 SubmittersRCV000244751 RCV000725026 RCV001088339 RCV001828142
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)	SNV Germline	Chr20:33417800	Conflicting classifications of pathogenicity	Cardiovascular phenotype Long QT syndrome 12 Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA9817183	rs_771180054	5 SubmittersRCV000245286 RCV000578006 RCV000578008 RCV000577950 RCV000578061 RCV001270098 RCV001859463
NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)	SNV Germline	ChrX:31134176	Conflicting classifications of pathogenicity	Cardiovascular phenotype Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10377501	rs_759642119	3 SubmittersRCV000242239 RCV001835745 RCV002518681
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg)	SNV Germline	ChrX:31627678	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10378131	rs_372600090	4 SubmittersRCV000242638 RCV000553196 RCV000615590 RCV003144182
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)	SNV Germline	ChrX:31679535	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378222	rs_371588290	4 SubmittersRCV000253476 RCV001246274 RCV001828165 RCV002494792
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)	SNV Germline	ChrX:31774073	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378279	rs_759274835	4 SubmittersRCV000248044 RCV001067594 RCV001828166 RCV002479986
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)	SNV Germline	ChrX:32346044	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Condition: not provided Long QT syndrome Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378672	rs_754765424	11 SubmittersRCV000247130 RCV000369939 RCV000468573 RCV000853039 RCV001085412 RCV001165782 RCV001835746
NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu)	SNV Germline	ChrX:32362897	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378740	rs_200740165	4 SubmittersRCV000244774 RCV000731031 RCV001244498 RCV001828163
NM_004006.3(DMD):c.1603-4C>G	SNV Germline	ChrX:32573850	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379781	rs_377223643	2 SubmittersRCV000248000 RCV001466607
NM_004006.3(DMD):c.1704+3G>A	SNV Germline	ChrX:32573742	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379764	rs_773123973	5 SubmittersRCV000250936 RCV000506220 RCV000728624 RCV001088009
NM_004006.3(DMD):c.694A>C (p.Ile232Leu)	SNV Germline	ChrX:32699249	Conflicting classifications of pathogenicity	Cardiovascular phenotype Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380085	rs_758447768	3 SubmittersRCV000245144 RCV001833291 RCV003765561
NM_004006.3(DMD):c.1382A>G (p.Asn461Ser)	SNV Germline	ChrX:32614403	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10379867	rs_775115784	4 SubmittersRCV000252992 RCV000460191 RCV000853047 RCV003144180
NM_004006.3(DMD):c.8218-2A>G	SNV Germline	ChrX:31507455	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10588768	rs_886039478	4 SubmittersRCV000256145 RCV002470829 RCV001828170
NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)	SNV Germline	ChrX:32362799	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10588770	rs_886039535	2 SubmittersRCV000254791 RCV002518763
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)	SNV Germline	ChrX:32464603	Pathogenic	Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10588771	rs_886039536	4 SubmittersRCV000255926 RCV001833300 RCV001859480
NM_004006.3(DMD):c.8459G>A (p.Trp2820Ter)	SNV Germline	ChrX:31496876	Likely pathogenic	Duchenne muscular dystrophy	No Assertion Criteria Provided	CA10588957	rs_886039785	1 SubmittersRCV000256452
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)	SNV Germline	ChrX:32565829	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603723	rs_886041344	3 SubmittersRCV000380011 RCV003512028
NM_004006.3(DMD):c.31+36947G>A	SNV Germline	ChrX:33174335	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603815	rs_886042106	6 SubmittersRCV000341131 RCV001377027 RCV001828175 RCV002321946 RCV003469218
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)	SNV Germline	ChrX:31496815	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378057	rs_767304792	4 SubmittersRCV000304920 RCV001521958 RCV001828177 RCV002411143
NM_004006.3(DMD):c.5358T>C (p.Phe1786=)	SNV Germline	ChrX:32348496	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10603839	rs_886042125	3 SubmittersRCV000337628 RCV002059074 RCV004609340
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)	SNV Germline	ChrX:32364704	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603873	rs_886042154	3 SubmittersRCV000286028 RCV002519089
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)	SNV Germline	ChrX:32565760	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379682	rs_147822019	12 SubmittersRCV000305211 RCV000514379 RCV001082933 RCV001833309 RCV002411145 RCV004542986
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)	SNV Germline	ChrX:32438353	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379144	rs_766977775	4 SubmittersRCV000314992 RCV000724947 RCV001087643 RCV003165721
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)	SNV Germline	ChrX:31729713	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378249	rs_142236825	5 SubmittersRCV000724972 RCV001088245 RCV001833314 RCV002392795
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)	SNV Germline	ChrX:31478214	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377981	rs_150766816	6 SubmittersRCV000724978 RCV001468477 RCV001828183 RCV002374454
NM_004006.3(DMD):c.7310-7A>G	SNV Germline	ChrX:31774199	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10378290	rs_373230021	8 SubmittersRCV000309756 RCV000862414 RCV001165708 RCV001529411 RCV001833315
NM_004006.3(DMD):c.3162+4A>G	SNV Germline	ChrX:32468494	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10379351	rs_189048508	5 SubmittersRCV000724996 RCV001087769 RCV002321948 RCV004525914
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)	SNV Germline	ChrX:32468613	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379367	rs_139772014	4 SubmittersRCV000289657 RCV001083952 RCV001833318 RCV002446517
NM_004006.3(DMD):c.650-7C>T	SNV Germline	ChrX:32699300	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380093	rs_759997772	2 SubmittersRCV000262257 RCV001426523
NM_004006.3(DMD):c.1095A>C (p.Gln365His)	SNV Germline	ChrX:32645018	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 3B Condition: not provided	Criteria Provided Conflicting Classifications	CA10379975	rs_1800266	10 SubmittersRCV000367474 RCV000458417 RCV000618297 RCV001168120 RCV001701930
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)	SNV Germline	ChrX:32364660	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378777	rs_145181319	5 SubmittersRCV000725098 RCV001027925 RCV001080037 RCV002338825
NM_004006.3(DMD):c.7722G>C (p.Gln2574His)	SNV Germline	ChrX:31679525	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378219	rs_368164231	5 SubmittersRCV000355167 RCV000803400 RCV001833322 RCV002401978
NM_004006.3(DMD):c.146G>A (p.Arg49His)	SNV Germline	ChrX:32849768	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380249	rs_765584669	6 SubmittersRCV000273629 RCV000695408 RCV001828187 RCV002392799 RCV002494825
NM_004006.3(DMD):c.4941G>A (p.Thr1647=)	SNV Germline	ChrX:32365104	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378818	rs_750090479	3 SubmittersRCV000404796 RCV001400190 RCV002338828
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)	SNV Germline	ChrX:31169519	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10604314	rs_886042495	4 SubmittersRCV000711447 RCV001071113
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)	SNV Germline	ChrX:32614368	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10604318	rs_886042499	3 SubmittersRCV000342446 RCV002518864
NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)	SNV Germline	ChrX:31147478	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377564	rs_766716563	5 SubmittersRCV000391421 RCV001243918 RCV001828190 RCV002401980
NM_004006.3(DMD):c.961-6G>A	SNV Germline	ChrX:32645158	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10604369	rs_886042535	2 SubmittersRCV000310609 RCV001490966
NM_004006.3(DMD):c.10291G>A (p.Asp3431Asn)	SNV Germline	ChrX:31173576	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377634	rs_776084073	3 SubmittersRCV000341762 RCV003105847 RCV004021131
NM_004006.3(DMD):c.93+1G>A	SNV Germline	ChrX:33020138	Pathogenic	Condition: not provided Duchenne muscular dystrophy Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA10604467	rs_886042604	3 SubmittersRCV000334318 RCV000379611 RCV001814144
NM_004006.3(DMD):c.10223+20G>A	SNV Germline	ChrX:31178649	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10604513	rs_886042643	2 SubmittersRCV000327369 RCV002521900
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)	SNV Germline	ChrX:32364596	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10604634	rs_886042747	4 SubmittersRCV000346578 RCV000391947
NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser)	SNV Germline	ChrX:32448554	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10604784	rs_886042862	3 SubmittersRCV000284752 RCV003512030 RCV004992153
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)	SNV Germline	ChrX:31679427	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378209	rs_72466581	5 SubmittersRCV000308930 RCV000620173 RCV001085652
NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)	SNV Germline	ChrX:31180394	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10604800	rs_886042875	2 SubmittersRCV000322331 RCV001382719
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)	SNV Germline	ChrX:32463496	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10604858	rs_191164314	4 SubmittersRCV000329676 RCV001088683 RCV001828204 RCV003165736
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)	SNV Germline	ChrX:31507349	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10378094	rs_72466575	4 SubmittersRCV000364124 RCV001452835 RCV001828205
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)	SNV Germline	ChrX:31209582	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377802	rs_771392678	9 SubmittersRCV000263365 RCV000463720 RCV000725517 RCV001165643 RCV001833336 RCV002374462 RCV004535328
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)	SNV Germline	ChrX:31875201	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378350	rs_141151675	7 SubmittersRCV000725518 RCV001089128 RCV001167296 RCV001828207 RCV002365315
NM_004006.3(DMD):c.2937C>T (p.Leu979=)	SNV Germline	ChrX:32472176	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379407	rs_774450833	3 SubmittersRCV000352209 RCV000725543 RCV001468972
NM_004006.3(DMD):c.457C>T (p.Gln153Ter)	SNV Germline	ChrX:32816541	Pathogenic	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10604955	rs_886042983	5 SubmittersRCV000322545 RCV001389979 RCV004796150
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)	SNV Germline	ChrX:31773981	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378266	rs_112516305	8 SubmittersRCV000304326 RCV000619872 RCV000725558 RCV001083787 RCV001165704 RCV001833338 RCV004543055
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)	SNV Germline	ChrX:32441307	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10379186	rs_200213555	7 SubmittersRCV000394586 RCV000547718 RCV001169829 RCV001795483 RCV001835753
NM_004006.3(DMD):c.2988A>G (p.Leu996=)	SNV Germline	ChrX:32468672	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379378	rs_148835707	7 SubmittersRCV000318425 RCV001081510 RCV001828210 RCV002436107 RCV004535344
NM_004006.3(DMD):c.243G>A (p.Leu81=)	SNV Germline	ChrX:32844804	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380220	rs_748842563	4 SubmittersRCV000343938 RCV002059169 RCV002450814
NM_004006.3(DMD):c.5739+1G>T	SNV Germline	ChrX:32343133	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA10605032	rs_886043041	4 SubmittersRCV000334459 RCV001004419 RCV001833346
NM_004006.3(DMD):c.3237G>A (p.Gly1079=)	SNV Germline	ChrX:32464625	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379325	rs_748235011	2 SubmittersRCV000359961 RCV003621523
NM_004006.3(DMD):c.10623C>T (p.Ser3541=)	SNV Germline	ChrX:31147449	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605045	rs_886043051	2 SubmittersRCV000403637 RCV003512031
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)	SNV Germline	ChrX:32816564	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380158	rs_398123952	7 SubmittersRCV000363943 RCV001246596 RCV002328777
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)	SNV Germline	ChrX:32454820	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379265	rs_144667422	4 SubmittersRCV000400926 RCV001088792 RCV001835755 RCV003298339
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)	SNV Germline	ChrX:32441287	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379181	rs_746405191	5 SubmittersRCV000303979 RCV001519060 RCV001833350 RCV002356382 RCV004535347
NM_004006.3(DMD):c.8999G>A (p.Arg3000His)	SNV Germline	ChrX:31444566	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10377939	rs_772695216	3 SubmittersRCV000323204 RCV001454556 RCV001828218
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)	SNV Germline	ChrX:32438376	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379150	rs_377156960	6 SubmittersRCV000290499 RCV000341663 RCV001088143 RCV001833352 RCV002374467
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)	SNV Germline	ChrX:32595765	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA10605246	rs_763936813	4 SubmittersRCV000351927 RCV001859630 RCV003469235 RCV003317180
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)	SNV Germline	ChrX:32573762	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379769	rs_145739725	8 SubmittersRCV000352738 RCV000474046 RCV001167504 RCV002411155
NM_004006.3(DMD):c.10592A>G (p.His3531Arg)	SNV Germline	ChrX:31147480	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10605380	rs_886043324	4 SubmittersRCV000357952 RCV000475495 RCV002401993
NM_004006.3(DMD):c.9093C>T (p.Val3031=)	SNV Germline	ChrX:31348626	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377912	rs_72466563	8 SubmittersRCV000725803 RCV001081154 RCV001833358 RCV002374469 RCV004535362
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)	SNV Germline	ChrX:32468580	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10379364	rs_370171367	4 SubmittersRCV000725809 RCV001859643 RCV001833359
NM_004006.3(DMD):c.2967G>T (p.Leu989=)	SNV Germline	ChrX:32468693	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10605412	rs_760097427	4 SubmittersRCV000260506 RCV001082111 RCV002436112
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)	SNV Germline	ChrX:32518117	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379604	rs_192004962	5 SubmittersRCV000286959 RCV000725841 RCV001063135 RCV002429228
NM_004006.3(DMD):c.357+7A>G	SNV Germline	ChrX:32823288	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605543	rs_886043456	2 SubmittersRCV000328636 RCV001081447
NM_004006.3(DMD):c.4845+8C>T	SNV Germline	ChrX:32380502	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605546	rs_886043459	2 SubmittersRCV000283500 RCV001491179
NM_004006.3(DMD):c.6290+5G>A	SNV Germline	ChrX:32287524	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605553	rs_886043467	3 SubmittersRCV000362808 RCV000725892 RCV003512032
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)	SNV Germline	ChrX:32464623	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10605583	rs_886043493	6 SubmittersRCV000711453 RCV001070295 RCV001833366 RCV002446523
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)	SNV Germline	ChrX:32411811	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10605586	rs_886043496	3 SubmittersRCV000264926 RCV002521955
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)	SNV Germline	ChrX:31323657	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377895	rs_137905486	8 SubmittersRCV000329066 RCV000622128 RCV000725916 RCV001080762 RCV001835758 RCV004543092
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)	SNV Germline	ChrX:31146366	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377520	rs_368996545	6 SubmittersRCV000274960 RCV000703034 RCV000725921 RCV004992159
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)	SNV Germline	ChrX:31496899	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378066	rs_139365076	5 SubmittersRCV000725939 RCV001085883 RCV001828240 RCV002446524
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)	SNV Germline	ChrX:31658103	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378184	rs_754997935	5 SubmittersRCV000300354 RCV000726070 RCV001078475 RCV001828245 RCV003165756
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)	SNV Germline	ChrX:31929612	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378386	rs_747055774	5 SubmittersRCV000379290 RCV000466186 RCV002365321 RCV004535401
NM_004006.3(DMD):c.2344A>C (p.Arg782=)	SNV Germline	ChrX:32501791	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605919	rs_886043764	2 SubmittersRCV000317337 RCV002518005
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)	SNV Germline	ChrX:32463544	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA10379305	rs_775591219	3 SubmittersRCV000384117 RCV001503085 RCV003114453
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)	SNV Germline	ChrX:32365194	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378835	rs_143719666	4 SubmittersRCV000338640 RCV001479908 RCV001833381 RCV002338852
NM_004006.3(DMD):c.9224+15T>A	SNV Germline	ChrX:31323583	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605987	rs_377505638	2 SubmittersRCV000359182 RCV003512033
NM_004006.3(DMD):c.1014A>G (p.Glu338=)	SNV Germline	ChrX:32645099	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379984	rs_758035070	4 SubmittersRCV000275363 RCV001828250 RCV001484138 RCV004021251
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)	SNV Germline	ChrX:32518009	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379588	rs_199588981	7 SubmittersRCV000397777 RCV000726166 RCV001081740 RCV001833382 RCV002450828
NM_004006.3(DMD):c.9987A>G (p.Leu3329=)	SNV Germline	ChrX:31180469	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377708	rs_145595228	4 SubmittersRCV000377578 RCV001828253 RCV001469451 RCV004992162
NM_004006.3(DMD):c.9563+1G>A	SNV Germline	ChrX:31209497	Pathogenic	Duchenne muscular dystrophy Condition: not provided Qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA10606200	rs_886043989	12 SubmittersRCV000274126 RCV000726209 RCV003155153
NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser)	SNV Germline	ChrX:31478366	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378002	rs_756160145	4 SubmittersRCV000289576 RCV001088292 RCV002374480
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)	SNV Germline	ChrX:31774075	Conflicting classifications of pathogenicity	Condition: not provided not specified Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378280	rs_757394130	4 SubmittersRCV000342399 RCV001174938 RCV001088963 RCV002379147
NM_004006.3(DMD):c.9361+9T>C	SNV Germline	ChrX:31223038	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10377824	rs_746607414	2 SubmittersRCV000304978 RCV001482381
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)	SNV Germline	ChrX:31774053	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378275	rs_766075840	5 SubmittersRCV000373348 RCV001082035 RCV001828258 RCV002379148
NM_004006.3(DMD):c.468A>C (p.Val156=)	SNV Germline	ChrX:32816530	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10606253	rs_886044031	4 SubmittersRCV000407090 RCV000618940 RCV001274386 RCV001486144
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)	SNV Germline	ChrX:32389536	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606266	rs_748769566	3 SubmittersRCV000387009 RCV000726249 RCV004796155
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)	SNV Germline	ChrX:31658098	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Primary dilated cardiomyopathy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378183	rs_146020545	6 SubmittersRCV000341637 RCV000527970 RCV000726250 RCV001270144 RCV001833386 RCV003343745
NM_004006.3(DMD):c.1482+7G>T	SNV Germline	ChrX:32614296	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10379847	rs_766338928	4 SubmittersRCV000401219 RCV001411296 RCV001828259
NM_004006.3(DMD):c.5530C>A (p.Arg1844=)	SNV Germline	ChrX:32345999	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378661	rs_1064325	5 SubmittersRCV000355492 RCV000726290 RCV001460348 RCV002348019
NM_004006.3(DMD):c.10911G>A (p.Ser3637=)	SNV Germline	ChrX:31146301	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377517	rs_747939733	4 SubmittersRCV000305361 RCV001082046 RCV001828265 RCV004021273
NM_004006.3(DMD):c.626T>C (p.Ile209Thr)	SNV Germline	ChrX:32809516	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380113	rs_372832497	6 SubmittersRCV000391044 RCV000696155 RCV001168874 RCV001835765 RCV002480044
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)	SNV Germline	ChrX:32573762	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379768	rs_145739725	7 SubmittersRCV000362270 RCV000766091 RCV001086639 RCV002402004
NM_004006.3(DMD):c.501G>T (p.Leu167=)	SNV Germline	ChrX:32816497	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10380149	rs_150239235	4 SubmittersRCV000272433 RCV001088013 RCV002338857 RCV001835766
NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser)	SNV Germline	ChrX:31658017	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378173	rs_371437381	4 SubmittersRCV000274831 RCV001828267 RCV001245262 RCV003165772
NM_004006.3(DMD):c.2637G>T (p.Arg879=)	SNV Germline	ChrX:32485085	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10606553	rs_886044268	2 SubmittersRCV000369654 RCV001446652
NM_004006.3(DMD):c.2638C>T (p.Leu880=)	SNV Germline	ChrX:32485084	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10606554	rs_886044269	2 SubmittersRCV000275089 RCV002059271
NM_004006.3(DMD):c.8669-1G>C	SNV Germline	ChrX:31478375	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606618	rs_886044324	4 SubmittersRCV000284523 RCV002519333
NM_004006.3(DMD):c.5064G>T (p.Val1688=)	SNV Germline	ChrX:32364672	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10606646	rs_886044345	2 SubmittersRCV000403678 RCV001432892
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)	SNV Germline	ChrX:32346065	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378676	rs_766746479	7 SubmittersRCV000356388 RCV000726437 RCV001247125 RCV004737425
NM_004006.3(DMD):c.4072-3T>C	SNV Germline	ChrX:32411916	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10379044	rs_751657094	5 SubmittersRCV000329931 RCV000726439 RCV001078710 RCV002321964 RCV001833401
NM_004006.3(DMD):c.4773T>C (p.Asp1591=)	SNV Germline	ChrX:32380582	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10606662	rs_886044358	3 SubmittersRCV000328963 RCV001392696 RCV004021298
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)	SNV Germline	ChrX:32310266	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378563	rs_148135406	5 SubmittersRCV000274771 RCV001082959 RCV001835768 RCV002356394
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)	SNV Germline	ChrX:32438263	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10379126	rs_750981128	6 SubmittersRCV000316844 RCV002321965 RCV001339956 RCV001833402
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)	SNV Germline	ChrX:31836788	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378333	rs_201262489	4 SubmittersRCV000261998 RCV001078740 RCV001828275 RCV003165774
NM_004006.3(DMD):c.10465C>T (p.Arg3489Cys)	SNV Germline	ChrX:31169531	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10377587	rs_771240938	2 SubmittersRCV000322856 RCV003512034
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)	SNV Germline	ChrX:31444532	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377935	rs_774722438	5 SubmittersRCV000307995 RCV001084949 RCV001165644 RCV001828276 RCV002374486
NM_004006.3(DMD):c.831G>A (p.Gln277=)	SNV Germline	ChrX:32699112	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10606749	rs_398124067	2 SubmittersRCV000325471 RCV002522025
NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)	SNV Germline	ChrX:32348510	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606778	rs_886044455	2 SubmittersRCV000384496 RCV000817852
NM_004006.3(DMD):c.2210G>A (p.Arg737His)	SNV Germline	ChrX:32518090	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10379599	rs_773358704	6 SubmittersRCV000263149 RCV000317545 RCV001484612 RCV003298349 RCV004701395
NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)	SNV Germline	ChrX:32343167	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378618	rs_752774864	4 SubmittersRCV000329015 RCV001231485 RCV001833409
NM_004006.3(DMD):c.8172C>T (p.Leu2724=)	SNV Germline	ChrX:31627718	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10606837	rs_886044500	3 SubmittersRCV000299536 RCV001473755 RCV002429238
NM_004006.3(DMD):c.9975-2A>C	SNV Germline	ChrX:31180483	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10606839	rs_886044502	2 SubmittersRCV000595692 RCV000726519
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)	SNV Germline	ChrX:31182824	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377728	rs_146543659	4 SubmittersRCV000270713 RCV001833410 RCV001079512 RCV002379152
NM_004006.3(DMD):c.9649+8G>A	SNV Germline	ChrX:31206574	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10377768	rs_373703618	3 SubmittersRCV000307296 RCV001083126 RCV001833412
NM_004006.3(DMD):c.358-1G>A	SNV Germline	ChrX:32816641	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606939	rs_886044582	2 SubmittersRCV000395728 RCV001062367
NM_004006.3(DMD):c.6614+7C>T	SNV Germline	ChrX:31968332	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378436	rs_180719577	8 SubmittersRCV000305282 RCV000726571 RCV001088071 RCV001833414 RCV004537617
NM_004006.3(DMD):c.514C>G (p.Leu172Val)	SNV Germline	ChrX:32816484	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380147	rs_747353479	3 SubmittersRCV000342358 RCV002522039
NM_004006.3(DMD):c.3603+7A>G	SNV Germline	ChrX:32454655	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10607032	rs_886044663	2 SubmittersRCV000381035 RCV002518160
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)	SNV Germline	ChrX:31507349	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378093	rs_72466575	7 SubmittersRCV000726635 RCV001080858 RCV001828283 RCV002411177
NM_004006.3(DMD):c.2508T>C (p.Tyr836=)	SNV Germline	ChrX:32491391	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10607045	rs_886044674	3 SubmittersRCV000381239 RCV000536795 RCV001833417
NM_004006.3(DMD):c.4345-8C>T	SNV Germline	ChrX:32389682	Conflicting classifications of pathogenicity	not specified Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10607046	rs_886044675	4 SubmittersRCV000346199 RCV000726636 RCV001273873 RCV001499634
NM_004006.3(DMD):c.530+7A>T	SNV Germline	ChrX:32816461	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10380144	rs_72470523	6 SubmittersRCV000402577 RCV000487649 RCV001080887 RCV001833485
NM_004006.3(DMD):c.10146C>G (p.Thr3382=)	SNV Germline	ChrX:31178746	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377685	rs_766427132	4 SubmittersRCV000348269 RCV001496124 RCV001835786 RCV002328896
NM_004006.3(DMD):c.6912+7C>T	SNV Germline	ChrX:31929589	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378383	rs_779161941	2 SubmittersRCV000386267 RCV002058827
NM_004006.3(DMD):c.4845+4A>T	SNV Germline	ChrX:32380506	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378860	rs_368357171	3 SubmittersRCV000276487 RCV001425825 RCV002338966
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)	SNV Germline	ChrX:32448576	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B not specified Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379210	rs_373281760	8 SubmittersRCV000310255 RCV000733599 RCV000828194 RCV001086115 RCV001833484 RCV002450944
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)	SNV Germline	ChrX:31496826	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10654305	rs_965718917	7 SubmittersRCV000268291 RCV000732972 RCV001861352 RCV003168583
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)	SNV Germline	ChrX:31968498	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378454	rs_767681834	3 SubmittersRCV000389716 RCV002502413 RCV002523832
NM_004006.3(DMD):c.5964C>T (p.Asp1988=)	SNV Germline	ChrX:32310235	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10654306	rs_1057515869	3 SubmittersRCV000336456 RCV001444991 RCV001828367
NM_004006.3(DMD):c.3921+12A>G	SNV Germline	ChrX:32441168	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B not specified Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10379169	rs_760373690	4 SubmittersRCV000391016 RCV000444331 RCV002058828 RCV003144244
NM_004006.3(DMD):c.842G>C (p.Ser281Thr)	SNV Germline	ChrX:32697988	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380042	rs_762274027	3 SubmittersRCV000803894 RCV001697830 RCV002446637
NM_004006.3(DMD):c.2168+1G>A	SNV Germline	ChrX:32545158	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16043316	rs_1057518207	3 SubmittersRCV000414740 RCV000541101
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	SNV Germline	ChrX:31177947	Conflicting classifications of pathogenicity	Cardiomyopathy Ptosis Clinodactyly of the 5th finger Proptosis Pectus excavatum Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Qualitative or quantitative defects of dystrophin Condition: not provided not specified Cardiovascular phenotype Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10377653	rs_201217593	11 SubmittersRCV000415019 RCV000763208 RCV001035227 RCV001420737 RCV001764346 RCV002248648 RCV002379278 RCV003470367
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)	SNV Germline	ChrX:32573812	Pathogenic	6 conditions Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16043590	rs_1057518962	3 SubmittersRCV000415104 RCV001198405 RCV002521460 RCV004796172
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)	SNV Germline	ChrX:31836731	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16043742	rs_1057519106	5 SubmittersRCV000415746 RCV000457466 RCV001833507 RCV003298426
NM_004006.3(DMD):c.5601A>C (p.Gln1867His)	SNV Germline	ChrX:32343272	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA16043825	rs_1057519179	2 SubmittersRCV000416210 RCV003512038
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)	SNV Germline	ChrX:32346040	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378670	rs_369055628	7 SubmittersRCV000415647 RCV000415685 RCV000415628 RCV000513342 RCV001833509 RCV004992198
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)	SNV Germline	ChrX:32342264	Pathogenic	Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16608442	rs_1057520764	4 SubmittersRCV000424485 RCV000620663 RCV002524857
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)	SNV Germline	ChrX:32472255	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Condition: not provided DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379419	rs_142133195	5 SubmittersRCV000436857 RCV000530235 RCV001828430 RCV003144261 RCV004539870
NM_004006.3(DMD):c.2846G>A (p.Ser949Asn)	SNV Germline	ChrX:32472267	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA16608445	rs_1057522383	2 SubmittersRCV000438236 RCV002521764
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)	SNV Germline	ChrX:32491282	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10379488	rs_200872948	8 SubmittersRCV000445178 RCV000820116 RCV000621146 RCV000727237 RCV001195878
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)	SNV Germline	ChrX:32595841	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379829	rs_755456119	7 SubmittersRCV000428491 RCV000727262 RCV001167508 RCV001497899 RCV001828413 RCV002392980
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)	SNV Germline	ChrX:32614323	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Long QT syndrome Brugada syndrome Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B not specified	Criteria Provided Conflicting Classifications	CA10379855	rs_758932385	8 SubmittersRCV000867437 RCV000853046 RCV001696776 RCV001833567 RCV002393052 RCV002502585 RCV004999415
NM_004006.3(DMD):c.5144A>G (p.Asp1715Gly)	SNV Germline	ChrX:32364592	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378768	rs_151109270	3 SubmittersRCV000432972 RCV000820032 RCV002339020
NM_004006.3(DMD):c.2572A>T (p.Thr858Ser)	SNV Germline	ChrX:32491327	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379493	rs_752670585	2 SubmittersRCV000432155 RCV000630562
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)	SNV Germline	ChrX:31478157	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377972	rs_371648038	6 SubmittersRCV000443270 RCV000726697 RCV001509680 RCV002374699 RCV001835800 RCV004539891
NM_004006.3(DMD):c.7873-6C>A	SNV Germline	ChrX:31658150	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378193	rs_764629897	3 SubmittersRCV000427803 RCV001865379
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)	SNV Germline	ChrX:32287607	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10378513	rs_774825173	5 SubmittersRCV000424766 RCV001460941 RCV001828420 RCV003380559 RCV003144260
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)	SNV Germline	ChrX:32287668	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378521	rs_140791274	4 SubmittersRCV000459246 RCV000439362 RCV001833527
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)	SNV Germline	ChrX:32468614	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10379368	rs_199808421	4 SubmittersRCV000429074 RCV001861563 RCV001833544 RCV003437189
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)	SNV Germline	ChrX:32518048	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379592	rs_747802164	4 SubmittersRCV000433823 RCV001248135 RCV003144264 RCV002446738
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)	SNV Germline	ChrX:32645004	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10379972	rs_773299186	4 SubmittersRCV000432889 RCV001833571 RCV002526364 RCV002488986
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)	SNV Germline	ChrX:31146323	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16609174	rs_1057522606	6 SubmittersRCV000442608 RCV000527267 RCV000786295 RCV002429413
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)	SNV Germline	ChrX:31444491	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10377930	rs_778961643	3 SubmittersRCV000437257 RCV001348257 RCV003144263
NM_004006.3(DMD):c.5026-8C>T	SNV Germline	ChrX:32364718	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA16609177	rs_1057520973	3 SubmittersRCV000430237 RCV000869762
NM_004006.3(DMD):c.3604-12T>A	SNV Germline	ChrX:32448650	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379219	rs_183613970	3 SubmittersRCV000439969 RCV002061629
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)	SNV Germline	ChrX:32468564	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379359	rs_770148717	5 SubmittersRCV000734228 RCV001085168 RCV001833560 RCV004992212
NM_004006.3(DMD):c.2166A>G (p.Lys722=)	SNV Germline	ChrX:32545161	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379626	rs_147580966	5 SubmittersRCV000727475 RCV001081043 RCV001828443 RCV002429442
NM_004006.3(DMD):c.1889C>A (p.Thr630Lys)	SNV Germline	ChrX:32565805	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16609180	rs_1057523223	3 SubmittersRCV000432096 RCV001861609 RCV002411381
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)	SNV Germline	ChrX:32697946	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380038	rs_377587957	5 SubmittersRCV000437740 RCV000732712 RCV001086130 RCV001828407 RCV002374644
NM_004006.3(DMD):c.10975G>A (p.Val3659Met)	SNV Germline	ChrX:31134141	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377496	rs_768532317	5 SubmittersRCV000460936 RCV000999364 RCV001828471 RCV004022741
NM_004006.3(DMD):c.8418G>A (p.Gln2806=)	SNV Germline	ChrX:31496917	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA16616479	rs_953271494	2 SubmittersRCV000595424 RCV001440306
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)	SNV Germline	ChrX:31507432	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378103	rs_772732788	5 SubmittersRCV000472076 RCV000592149 RCV002481442
NM_004006.3(DMD):c.8209C>T (p.Gln2737Ter)	SNV Germline	ChrX:31627681	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616487	rs_1060502621	1 SubmittersRCV000477000
NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)	SNV Germline	ChrX:32364626	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616488	rs_765445866	2 SubmittersRCV000466883 RCV002461195
NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)	SNV Germline	ChrX:32365187	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616490	rs_1060502645	1 SubmittersRCV000463648
NM_004006.3(DMD):c.7892G>A (p.Arg2631His)	SNV Germline	ChrX:31658125	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378186	rs_748007790	4 SubmittersRCV000459837 RCV001828472 RCV003237871 RCV004022742
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)	SNV Germline	ChrX:32380634	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378879	rs_755206033	8 SubmittersRCV000593867 RCV001087423 RCV001167968 RCV001833588 RCV002339170 RCV004737533
NM_004006.3(DMD):c.4698G>A (p.Leu1566=)	SNV Germline	ChrX:32380657	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA16616494	rs_1060504680	2 SubmittersRCV000598268 RCV001418284
NM_004006.3(DMD):c.4071+1G>A	SNV Germline	ChrX:32438240	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616496	rs_1060502643	3 SubmittersRCV000475286 RCV000596761
NM_004006.3(DMD):c.6614+2T>C	SNV Germline	ChrX:31968337	Pathogenic	Duchenne muscular dystrophy not specified	Criteria Provided Multiple Submitters No Conflicts	CA16616497	rs_1060502641	2 SubmittersRCV000473580 RCV000507494
NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)	SNV Germline	ChrX:32441285	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA16616498	rs_760733415	4 SubmittersRCV000458499 RCV001833587 RCV002356685 RCV004722788
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)	SNV Germline	ChrX:32346070	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10378678	rs_1800271	4 SubmittersRCV000458789 RCV001833599 RCV003168910 RCV003884563
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)	SNV Germline	ChrX:32485057	Pathogenic	Duchenne muscular dystrophy Condition: not provided Qualitative or quantitative defects of dystrophin Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16616505	rs_1060502639	7 SubmittersRCV000474172 RCV000757161 RCV001193188 RCV001833585 RCV004568048
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr)	SNV Germline	ChrX:32454819	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16616507	rs_398123940	4 SubmittersRCV000461184 RCV001165856 RCV001810955 RCV002451118
NM_004006.3(DMD):c.2202G>A (p.Trp734Ter)	SNV Germline	ChrX:32518098	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616508	rs_1060502636	1 SubmittersRCV000458271
NM_004006.3(DMD):c.2551A>C (p.Asn851His)	SNV Germline	ChrX:32491348	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379496	rs_753665097	3 SubmittersRCV000464830 RCV001833584 RCV002489061
NM_004006.3(DMD):c.2077C>T (p.Gln693Ter)	SNV Germline	ChrX:32545250	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616517	rs_1060502661	1 SubmittersRCV000466434
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)	SNV Germline	ChrX:32573796	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616525	rs_1060502629	4 SubmittersRCV000469346 RCV000517238
NM_004006.3(DMD):c.1061G>A (p.Trp354Ter)	SNV Germline	ChrX:32645052	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616527	rs_1060502644	1 SubmittersRCV000475363
NM_004006.3(DMD):c.832-15A>G	SNV Germline	ChrX:32698013	Likely pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616530	rs_72470513	1 SubmittersRCV000475231
NM_004006.3(DMD):c.10797+1G>A	SNV Germline	ChrX:31147274	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616650	rs_1060502626	1 SubmittersRCV000464915
NM_004006.3(DMD):c.9621T>A (p.Cys3207Ter)	SNV Germline	ChrX:31206610	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616655	rs_1057524037	1 SubmittersRCV000456408
NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter)	SNV Germline	ChrX:31478129	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616658	rs_1060502633	2 SubmittersRCV000470018 RCV001782947
NM_004006.3(DMD):c.10921+7G>T	SNV Germline	ChrX:31146284	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA16616661	rs_1060504677	2 SubmittersRCV001088464 RCV003991532
NM_004006.3(DMD):c.6118-1G>A	SNV Germline	ChrX:32287702	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616663	rs_1060502656	1 SubmittersRCV000469689
NM_004006.3(DMD):c.5647A>T (p.Lys1883Ter)	SNV Germline	ChrX:32343226	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616669	rs_1060502623	1 SubmittersRCV000457870
NM_004006.3(DMD):c.5531G>A (p.Arg1844Gln)	SNV Germline	ChrX:32345998	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378660	rs_751221923	3 SubmittersRCV000475860 RCV001828475 RCV002348321
NM_004006.3(DMD):c.1329C>T (p.Ser443=)	SNV Germline	ChrX:32644134	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA16616679	rs_1060502631	3 SubmittersRCV000468102 RCV000999384
NM_004006.3(DMD):c.5040C>T (p.His1680=)	SNV Germline	ChrX:32364696	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA16616680	rs_72468632	3 SubmittersRCV000729142 RCV001084460 RCV001828492
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)	SNV Germline	ChrX:32365183	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378834	rs_377412251	4 SubmittersRCV000508246 RCV000728174 RCV001080511 RCV002339169
NM_004006.3(DMD):c.4072-1G>T	SNV Germline	ChrX:32411914	Likely pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616681	rs_1060502637	1 SubmittersRCV000465065
NM_004006.3(DMD):c.1149+1G>A	SNV Germline	ChrX:32644963	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616683	rs_1060502634	1 SubmittersRCV000458031
NM_004006.3(DMD):c.3603+3A>T	SNV Germline	ChrX:32454659	Pathogenic	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16616684	rs_1060502615	3 SubmittersRCV000473410 RCV003223641
NM_004006.3(DMD):c.2725G>A (p.Ala909Thr)	SNV Germline	ChrX:32484997	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16616685	rs_1060502616	3 SubmittersRCV000468817 RCV001828470 RCV004992237
NM_004006.3(DMD):c.2276T>A (p.Leu759Ter)	SNV Germline	ChrX:32518024	Pathogenic	Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA16616687	rs_1060502627	1 SubmittersRCV000472980
NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)	SNV Germline	ChrX:32645047	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10379978	rs_199981454	4 SubmittersRCV000473119 RCV001833589 RCV002411484 RCV003144269
NM_004006.3(DMD):c.8390+1G>A	SNV Germline	ChrX:31507280	Pathogenic	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16621360	rs_1064794569	3 SubmittersRCV000485023 RCV001061855
NM_004006.3(DMD):c.5149C>T (p.Leu1717Phe)	SNV Germline	ChrX:32364587	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378765	rs_769383291	3 SubmittersRCV000485408 RCV003512049
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)	SNV Germline	ChrX:32491344	Pathogenic	Condition: not provided Duchenne muscular dystrophy Qualitative or quantitative defects of dystrophin Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16621364	rs_1064793964	4 SubmittersRCV000483792 RCV001042761 RCV001280673 RCV002455918
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)	SNV Germline	ChrX:31729736	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378250	rs_771877780	7 SubmittersRCV000489054 RCV001290983 RCV001526901 RCV002395191
NM_004006.3(DMD):c.6762+3A>T	SNV Germline	ChrX:31932077	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA645293927	rs_1085307811	2 SubmittersRCV001248358 RCV001731717

NM_004006.3(DMD):c.3469G>T (p.Glu1157Ter)

SNV
Germline

ChrX:32454796

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA341016

rs_128625226

1 SubmittersRCV000011958

NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)

SNV
Germline

ChrX:32484931

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Single Submitter

CA341019

rs_128625227

2 SubmittersRCV000011960 RCV000517773

NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)

SNV
Germline

ChrX:32345978

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341022

rs_128625228

3 SubmittersRCV000011961

NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)

SNV
Germline

ChrX:31444621

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273079

rs_128625229

7 SubmittersRCV000011962 RCV000150056 RCV001831560

NM_004006.3(DMD):c.9974+2T>A

SNV
Germline

ChrX:31182736

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148333619

2 SubmittersRCV000011963

NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)

SNV
Germline

ChrX:31178784

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273073

rs_104894787

10 SubmittersRCV000011964 RCV000180033 RCV000710121 RCV001826457

NM_004006.3(DMD):c.6955C>T (p.Gln2319Ter)

SNV
Germline

ChrX:31875331

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341025

rs_128625230

2 SubmittersRCV000011971

NM_004006.3(DMD):c.253C>T (p.Gln85Ter)

SNV
Germline

ChrX:32844794

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA341028

rs_128626234

1 SubmittersRCV000011972

NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)

SNV
Germline

ChrX:32501833

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273097

rs_201366610

4 SubmittersRCV000011973 RCV000727553

NM_004006.3(DMD):c.2314G>T (p.Glu772Ter)

SNV
Germline

ChrX:32501821

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA341031

rs_267606770

1 SubmittersRCV000011975

NM_004006.3(DMD):c.433C>T (p.Arg145Ter)

SNV
Germline

ChrX:32816565

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273103

rs_128626235

9 SubmittersRCV000011976 RCV000255815

NM_004006.3(DMD):c.161T>G (p.Leu54Arg)

SNV
Germline

ChrX:32849753

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA341034

rs_128626231

1 SubmittersRCV000011979

NM_004006.3(DMD):c.3603+2T>G

SNV
Germline

ChrX:32454660

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

rs_146071084

1 SubmittersRCV000011980

NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)

SNV
Germline

ChrX:32545310

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341037

rs_128626232

3 SubmittersRCV000011984

NM_004006.3(DMD):c.10019G>A (p.Cys3340Tyr)

SNV
Germline

ChrX:31180437

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA121414

rs_104894788

1 SubmittersRCV003151720

NM_004006.3(DMD):c.94-1G>T

SNV
Germline

ChrX:32849821

Conflicting classifications of pathogenicity

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_863225016

4 SubmittersRCV000011988 RCV000990759 RCV001781232

NM_004006.3(DMD):c.178C>T (p.Gln60Ter)

SNV
Germline

ChrX:32849736

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA341040

rs_128626233

4 SubmittersRCV000011990 RCV000517214 RCV001831561

NM_004006.3(DMD):c.724C>T (p.Gln242Ter)

SNV
Germline

ChrX:32699219

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341043

rs_128626238

2 SubmittersRCV000011993

NM_004006.3(DMD):c.748G>T (p.Glu250Ter)

SNV
Germline

ChrX:32699195

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA341049

rs_128626239

1 SubmittersRCV000011994

NM_004006.3(DMD):c.1438G>T (p.Gly480Ter)

SNV
Germline

ChrX:32614347

Pathogenic

Intermediate muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA121417

rs_128626240

2 SubmittersRCV000011998 RCV003511974

NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)

SNV
Germline

ChrX:32595870

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341052

rs_128626241

4 SubmittersRCV000011999 RCV001781237

NM_004006.3(DMD):c.1952G>A (p.Trp651Ter)

SNV
Germline

ChrX:32565742

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA273100

rs_128626242

2 SubmittersRCV000011996

NM_004006.3(DMD):c.2308A>T (p.Lys770Ter)

SNV
Germline

ChrX:32501827

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341055

rs_128626243

2 SubmittersRCV000012001

NM_004006.3(DMD):c.2317A>G (p.Lys773Glu)

SNV
Germline

ChrX:32501818

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA341058

rs_128626244

1 SubmittersRCV000012002

NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)

SNV
Germline

ChrX:32468539

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273094

rs_128626245

3 SubmittersRCV000012005 RCV000727595

NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)

SNV
Germline

ChrX:32464674

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341061

rs_128626246

2 SubmittersRCV000012006

NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter)

SNV
Germline

ChrX:32411772

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341064

rs_128626247

2 SubmittersRCV000012007

NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)

SNV
Germline

ChrX:32389605

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341067

rs_128626248

5 SubmittersRCV000012008 RCV000734422

NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)

SNV
Germline

ChrX:32342123

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273091

rs_128626249

8 SubmittersRCV000012009 RCV000711463 RCV002354155

NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)

SNV
Germline

ChrX:32217062

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273088

rs_128626250

5 SubmittersRCV000012011 RCV001781242

NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)

SNV
Germline

ChrX:32216981

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273085

rs_128626251

3 SubmittersRCV000012012 RCV000150064

NM_004006.3(DMD):c.6790C>T (p.Gln2264Ter)

SNV
Germline

ChrX:31929718

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341070

rs_128626252

2 SubmittersRCV000012014

NM_004006.3(DMD):c.7402G>T (p.Glu2468Ter)

SNV
Germline

ChrX:31774100

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA341073

rs_128626253

1 SubmittersRCV000012017

NM_004006.3(DMD):c.9197C>A (p.Ser3066Ter)

SNV
Germline

ChrX:31323625

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341076

rs_128626254

2 SubmittersRCV000012021

NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)

SNV
Germline

ChrX:31178751

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
X-linked DMD-related dystrophinopathy
Abnormality of the musculature
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA273070

rs_104894790

12 SubmittersRCV000012024 RCV000437942 RCV000985010 RCV001813973 RCV001835626 RCV002287331

NM_004006.3(DMD):c.10223+5G>T

SNV
Germline

ChrX:31178664

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

rs_2148290176

1 SubmittersRCV000012026

NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)

SNV
Germline

ChrX:31206663

Pathogenic

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273076

rs_104894797

10 SubmittersRCV000012033 RCV000150055 RCV000723477 RCV001831564

NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)

SNV
Germline

ChrX:32438372

Pathogenic

Becker muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA255776

rs_5030730

10 SubmittersRCV000012034 RCV000183404 RCV000201024 RCV003323357

NM_004006.3(DMD):c.9225-285A>G

SNV
Germline

ChrX:31261301

Pathogenic

Becker muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA255779

rs_587776747

4 SubmittersRCV000012038 RCV000727267 RCV000803254

NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)

SNV
Germline

ChrX:31478330

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA273082

rs_128627256

7 SubmittersRCV000012040 RCV000150057 RCV000515392

NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter)

SNV
Germline

ChrX:32310214

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA341079

rs_128627257

2 SubmittersRCV000012042

NM_004006.3(DMD):c.9G>A (p.Trp3Ter)

SNV
Germline

ChrX:33211304

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Qualitative or quantitative defects of dystrophin
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA259713

rs_398122853

14 SubmittersRCV000022854 RCV000173322 RCV000183395 RCV000984166 RCV001264540 RCV001274389

NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)

SNV
Germline

ChrX:31180423

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266851

rs_398123827

6 SubmittersRCV000179687 RCV000518692 RCV001831824

NM_004006.3(DMD):c.10086+1G>A

SNV
Germline

ChrX:31180369

Pathogenic

Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266854

rs_398123828

4 SubmittersRCV000080405 RCV001196295 RCV003512011

NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)

SNV
Germline

ChrX:31178721

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA266859

rs_398123832

10 SubmittersRCV000183403 RCV000180030 RCV000763209 RCV001814051

NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter)

SNV
Germline

ChrX:31178700

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123833

1 SubmittersRCV002000139

NM_004006.3(DMD):c.10223+1G>A

SNV
Germline

ChrX:31178668

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Intermediate muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA266865

rs_398123834

8 SubmittersRCV000080415 RCV001386712 RCV001797983 RCV003323388

NM_004006.3(DMD):c.10262+1G>A

SNV
Germline

ChrX:31177931

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA222274

rs_145603325

9 SubmittersRCV000621654 RCV000723512 RCV000778896 RCV000990563 RCV001844031

NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile)

SNV
Germline

ChrX:31147429

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222280

rs_139492098

4 SubmittersRCV001043284 RCV001703995 RCV003162511 RCV004737189

NM_004006.3(DMD):c.10797+5G>A

SNV
Germline

ChrX:31147270

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222283

rs_398123846

2 SubmittersRCV000593534 RCV001070379

NM_004006.3(DMD):c.10863C>T (p.Ser3621=)

SNV
Germline

ChrX:31146349

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA222284

rs_398123847

3 SubmittersRCV000080433 RCV001396275 RCV001826723

NM_004006.3(DMD):c.10921+5G>A

SNV
Germline

ChrX:31146286

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA222287

rs_398123848

3 SubmittersRCV000080434 RCV001086288 RCV001826724

NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)

SNV
Germline

ChrX:32644202

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266876

rs_398123852

3 SubmittersRCV000080439 RCV000174090

NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)

SNV
Germline

ChrX:32644177

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266879

rs_398123853

3 SubmittersRCV000080440 RCV003512012

NM_004006.3(DMD):c.1311T>G (p.Ala437=)

SNV
Germline

ChrX:32644152

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222295

rs_398123855

5 SubmittersRCV000080442 RCV000723667 RCV001088936 RCV001831828 RCV002381399

NM_004006.3(DMD):c.1332-9A>G

SNV
Germline

ChrX:32614462

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266883

rs_72468700

3 SubmittersRCV000174322 RCV003512013

NM_004006.3(DMD):c.1337A>G (p.His446Arg)

SNV
Germline

ChrX:32614448

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285523

rs_72468699

7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772

NM_004006.3(DMD):c.1482+1G>T

SNV
Germline

ChrX:32614302

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266893

rs_398123862

3 SubmittersRCV000174327 RCV000821074

NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)

SNV
Germline

ChrX:32573834

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA266898

rs_398123865

6 SubmittersRCV000080461 RCV000174745 RCV004796006

NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)

SNV
Germline

ChrX:32573611

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285532

rs_150199251

8 SubmittersRCV000235164 RCV000619753 RCV000723549 RCV001079116 RCV001831832 RCV004542773

NM_004006.3(DMD):c.1848C>A (p.Ser616=)

SNV
Germline

ChrX:32565846

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA222307

rs_376024929

6 SubmittersRCV000723432 RCV001082698 RCV001826729 RCV002408607 RCV000080467

NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)

SNV
Germline

ChrX:32565704

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266909

rs_398123870

3 SubmittersRCV000080473 RCV001062806

NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)

SNV
Germline

ChrX:32545330

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA285538

rs_34563188

13 SubmittersRCV000080474 RCV000250691 RCV000711450 RCV000853044 RCV001084848 RCV001165928 RCV001826731

NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)

SNV
Germline

ChrX:32545295

Pathogenic

Condition: not provided
Abnormality of the musculature
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266915

rs_398123872

3 SubmittersRCV000175181 RCV001814052 RCV003512014

NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)

SNV
Germline

ChrX:32501803

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266928

rs_398123883

3 SubmittersRCV000175441 RCV000723618

NM_004006.3(DMD):c.2380+1G>C

SNV
Germline

ChrX:32501754

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266931

rs_398123884

2 SubmittersRCV000175444 RCV002515774

NM_004006.3(DMD):c.2381-1G>T

SNV
Germline

ChrX:32491519

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266933

rs_398123887

2 SubmittersRCV000176072 RCV003231116

NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)

SNV
Germline

ChrX:32491480

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266934

rs_398123888

2 SubmittersRCV000176074 RCV001230051

NM_004006.3(DMD):c.2436G>A (p.Trp812Ter)

SNV
Unknown

ChrX:32491463

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123889

1 SubmittersRCV000990712

NM_004006.3(DMD):c.2457A>C (p.Leu819=)

SNV
Germline

ChrX:32491442

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA222318

rs_72468680

12 SubmittersRCV000723550 RCV001082131 RCV001168044 RCV002444548 RCV001826736 RCV000225698

NM_004006.3(DMD):c.2490C>T (p.Asn830=)

SNV
Germline

ChrX:32491409

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA222321

rs_72468679

13 SubmittersRCV000223516 RCV000558620 RCV000621463 RCV001080824 RCV001168043 RCV001831837

NM_004006.3(DMD):c.2518C>T (p.Gln840Ter)

SNV
Germline

ChrX:32491381

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123892

1 SubmittersRCV002541118

NM_004006.3(DMD):c.2612A>C (p.Lys871Thr)

SNV
Germline

ChrX:32491287

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222336

rs_398123899

4 SubmittersRCV000630620 RCV000615589 RCV001168042 RCV002433587

NM_004006.3(DMD):c.2622+1G>A

SNV
Germline

ChrX:32491276

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266948

rs_398123901

2 SubmittersRCV000080514 RCV001053382

NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)

SNV
Germline

ChrX:32485072

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266949

rs_398123903

4 SubmittersRCV000176203 RCV000516840

NM_004006.3(DMD):c.2758C>T (p.Gln920Ter)

SNV
Germline

ChrX:32484964

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123905

2 SubmittersRCV001067282

NM_004006.3(DMD):c.2804-1G>A

SNV
Germline

ChrX:32472310

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266957

rs_398123909

2 SubmittersRCV000080525 RCV001050125

NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)

SNV
Germline

ChrX:32472286

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA222348

rs_199986217

9 SubmittersRCV000080527 RCV000618497 RCV000845504 RCV000990698 RCV001167433 RCV001831839

NM_004006.3(DMD):c.2828G>A (p.Arg943His)

SNV
Germline

ChrX:32472285

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222351

rs_398123911

4 SubmittersRCV000723655 RCV001512615 RCV001826739

NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)

SNV
Germline

ChrX:32472247

Pathogenic

Abnormality of the musculature
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123912

2 SubmittersRCV001814053 RCV001854419

NM_004006.3(DMD):c.2950-2A>G

SNV
Unknown

ChrX:32468712

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123915

1 SubmittersRCV000990696

NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter)

SNV
Unknown

ChrX:32468601

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123919

1 SubmittersRCV000990693

NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter)

SNV
Unknown

ChrX:32468584

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123920

1 SubmittersRCV000990692

NM_004006.3(DMD):c.31+1G>T

SNV
Germline

ChrX:33211281

Pathogenic

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA266984

rs_398123923

10 SubmittersRCV000080542 RCV000183396 RCV000808328 RCV001831841 RCV002321576

NM_004006.3(DMD):c.31+36949C>T

SNV
Germline

ChrX:33174333

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222358

rs_182597890

5 SubmittersRCV000225710 RCV000723492 RCV001826742 RCV004537357

NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)

SNV
Germline

ChrX:32468509

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA266988

rs_398123929

8 SubmittersRCV000201197 RCV000627237 RCV000763210 RCV001526893

NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)

SNV
Germline

ChrX:32464645

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222373

rs_398123931

7 SubmittersRCV001257055 RCV001826743 RCV002321577 RCV000080568

NM_004006.3(DMD):c.3276+1G>A

SNV
Germline

ChrX:32464585

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266993

rs_398123934

2 SubmittersRCV000080572 RCV001854420

NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)

SNV
Germline

ChrX:32463576

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266994

rs_398123935

4 SubmittersRCV000176552 RCV000176553 RCV000627261

NM_004006.3(DMD):c.3419A>G (p.His1140Arg)

SNV
Germline

ChrX:32463452

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222380

rs_201297190

6 SubmittersRCV000723384 RCV001081258 RCV001831843 RCV002453402

NM_004006.3(DMD):c.3432+1G>A

SNV
Germline

ChrX:32463438

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267000

rs_398123937

4 SubmittersRCV000176554 RCV000176555

NM_004006.3(DMD):c.3432+3A>G

SNV
Germline

ChrX:32463436

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267001

rs_398123938

3 SubmittersRCV000080581 RCV002514414

NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)

SNV
Germline

ChrX:32454685

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267006

rs_398123942

3 SubmittersRCV000080586 RCV000176666

NM_004006.3(DMD):c.3603+2T>A

SNV
Germline

ChrX:32454660

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222388

rs_146071084

2 SubmittersRCV000176660 RCV000990681

NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)

SNV
Germline

ChrX:32411892

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285566

rs_148781346

7 SubmittersRCV000235165 RCV000476221 RCV001703996 RCV002321578 RCV004542776

NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)

SNV
Germline

ChrX:32411868

Pathogenic

Condition: not provided
not specified
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267016

rs_398123948

4 SubmittersRCV000080601 RCV001001210 RCV001854421

NM_004006.3(DMD):c.4233+2C>T

SNV
Germline

ChrX:32411750

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA090924

rs_147474070

16 SubmittersRCV000080605 RCV000243182 RCV000467777 RCV000710122 RCV000853040 RCV001167970 RCV001831849 RCV004537359

NM_004006.3(DMD):c.434G>C (p.Arg145Pro)

SNV
Germline

ChrX:32816564

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222397

rs_398123952

4 SubmittersRCV000080612 RCV001237927

NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)

SNV
Germline

ChrX:32389644

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA267021

rs_398123953

5 SubmittersRCV000201013 RCV000727564 RCV001174851 RCV001831852

NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr)

SNV
Germline

ChrX:32389598

Conflicting classifications of pathogenicity

not specified
Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222400

rs_398123956

4 SubmittersRCV000506548 RCV001273872 RCV001854422 RCV003144126

NM_004006.3(DMD):c.4518+5G>A

SNV
Germline

ChrX:32389496

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA267031

rs_398123960

3 SubmittersRCV000555028 RCV000727552

NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)

SNV
Germline

ChrX:32380611

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
not specified
Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222407

rs_398123965

8 SubmittersRCV000333923 RCV000444690 RCV000630633 RCV001705750 RCV001831853 RCV004019555 RCV004737190

NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)

SNV
Germline

ChrX:32380580

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222410

rs_398123966

4 SubmittersRCV000080628 RCV000553672 RCV000723744 RCV004019556

NM_004006.3(DMD):c.489G>A (p.Trp163Ter)

SNV
Germline

ChrX:32816509

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123970

1 SubmittersRCV003445436

NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)

SNV
Germline

ChrX:32365049

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA267046

rs_398123973

9 SubmittersRCV000516386 RCV000545335 RCV001831854 RCV003323389

NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter)

SNV
Germline

ChrX:32364602

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123980

1 SubmittersRCV001253506

NM_004006.3(DMD):c.5181A>T (p.Ile1727=)

SNV
Germline

ChrX:32362932

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA222423

rs_200887855

8 SubmittersRCV000723693 RCV001081480 RCV001831856 RCV002336233 RCV000080645

NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)

SNV
Germline

ChrX:32362931

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
DMD-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA285577

rs_34102501

15 SubmittersRCV000514541 RCV000621386 RCV001085478 RCV001167365 RCV001826752 RCV004537360 RCV000212487

NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)

SNV
Germline

ChrX:32362826

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
not specified
Dilated cardiomyopathy 3B
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA267055

rs_398123981

7 SubmittersRCV000080648 RCV000177912 RCV001000065 RCV001198765 RCV001826753

NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)

SNV
Germline

ChrX:32362825

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222426

rs_398123982

6 SubmittersRCV000585494 RCV000794522 RCV001002261 RCV001826754 RCV004017393

NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)

SNV
Germline

ChrX:32348501

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123990

3 SubmittersRCV000711461 RCV002514415

NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)

SNV
Germline

ChrX:32345999

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA267064

rs_1064325

9 SubmittersRCV000080659 RCV000178001 RCV001831858 RCV004796007

NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)

SNV
Germline

ChrX:32345975

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267067

rs_398123991

2 SubmittersRCV000080660 RCV001854424

NM_004006.3(DMD):c.5586+9G>A

SNV
Germline

ChrX:32345934

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
DMD-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA222436

rs_200025478

8 SubmittersRCV000361961 RCV000463221 RCV001811372 RCV001831859 RCV004542777 RCV000080664

NM_004006.3(DMD):c.5658T>C (p.Ala1886=)

SNV
Germline

ChrX:32343215

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222437

rs_398123994

5 SubmittersRCV000080667 RCV000723644 RCV001088624 RCV001831860 RCV002345394

NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter)

SNV
Germline

ChrX:32342249

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267077

rs_398123997

2 SubmittersRCV000201201

NM_004006.3(DMD):c.5827A>G (p.Met1943Val)

SNV
Germline

ChrX:32342195

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222441

rs_181849614

6 SubmittersRCV000080673 RCV001086404 RCV001169757 RCV001831862 RCV002354277 RCV004542778

NM_004006.3(DMD):c.583C>T (p.Arg195Ter)

SNV
Germline

ChrX:32809559

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA267083

rs_398123999

8 SubmittersRCV000179875 RCV000338327 RCV001274385 RCV002498417

NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)

SNV
Germline

ChrX:32310215

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA147837

rs_147927593

7 SubmittersRCV000622085 RCV000711464 RCV001081041 RCV001835677 RCV002498418

NM_004006.3(DMD):c.606C>T (p.Ile202=)

SNV
Germline

ChrX:32809536

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA222444

rs_138335295

5 SubmittersRCV000080681 RCV001082735 RCV001831863 RCV002354278 RCV003323390

NM_004006.3(DMD):c.6195T>C (p.Ser2065=)

SNV
Germline

ChrX:32287624

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA222450

rs_398124006

3 SubmittersRCV000080686 RCV001444484 RCV001831864

NM_004006.3(DMD):c.6226G>T (p.Glu2076Ter)

SNV
Germline

ChrX:32287593

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398124007

1 SubmittersRCV003622828

NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)

SNV
Germline

ChrX:32287536

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_398124008

5 SubmittersRCV000809481 RCV001093403

NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)

SNV
Germline

ChrX:32217034

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
not specified
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285586

rs_142807436

10 SubmittersRCV000723715 RCV000853038 RCV001167894 RCV001083222 RCV001835678 RCV002265600 RCV002354279 RCV004537361

NM_004006.3(DMD):c.6471T>A (p.Thr2157=)

SNV
Germline

ChrX:31968482

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222478

rs_377080659

6 SubmittersRCV000294282 RCV000617199 RCV001086507 RCV001831866 RCV000080735

NM_004006.3(DMD):c.6763-2A>G

SNV
Germline

ChrX:31929747

Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

rs_398124033

3 SubmittersRCV001780943 RCV002034586 RCV002503270

NM_004006.3(DMD):c.6828C>T (p.Pro2276=)

SNV
Germline

ChrX:31929680

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285595

rs_72466595

13 SubmittersRCV000080740 RCV000466055 RCV001167299 RCV001528581 RCV001831867 RCV002362727 RCV004542779

NM_004006.3(DMD):c.7016A>G (p.His2339Arg)

SNV
Germline

ChrX:31875270

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA285598

rs_398124041

7 SubmittersRCV000212489 RCV000544107 RCV001508956

NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)

SNV
Germline

ChrX:31836735

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Hereditary skeletal muscle disorder
not specified

Criteria Provided
Conflicting Classifications

CA147852

rs_72466590

16 SubmittersRCV000246044 RCV000509543 RCV001093402 RCV000990621 RCV001167295 RCV004776429 RCV000080750

NM_004006.3(DMD):c.7309+1G>A

SNV
Germline

ChrX:31819974

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267133

rs_398124044

3 SubmittersRCV000080753 RCV001389468

NM_004006.3(DMD):c.7323T>C (p.Thr2441=)

SNV
Germline

ChrX:31774179

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA222490

rs_201919981

6 SubmittersRCV000723546 RCV001088599 RCV001826759 RCV002381400 RCV000080757

NM_004006.3(DMD):c.7542+10A>G

SNV
Germline

ChrX:31773950

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222493

rs_398124046

2 SubmittersRCV000080759 RCV001440478

NM_004006.3(DMD):c.7542+7G>A

SNV
Germline

ChrX:31773953

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222494

rs_398124047

2 SubmittersRCV000080761 RCV001088644

NM_004006.3(DMD):c.7653G>A (p.Thr2551=)

SNV
Germline

ChrX:31729638

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA147856

rs_368803197

9 SubmittersRCV000080764 RCV001080502 RCV001169691 RCV001826760 RCV002274910 RCV002390235 RCV004542780

NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)

SNV
Germline

ChrX:31729634

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA267135

rs_398124050

8 SubmittersRCV000711467 RCV000797219 RCV001835679

NM_004006.3(DMD):c.7672C>T (p.Gln2558Ter)

SNV
Germline

ChrX:31679575

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA222496

rs_398124051

1 SubmittersRCV000539749

NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)

SNV
Germline

ChrX:31679476

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267143

rs_398124055

2 SubmittersRCV000080771 RCV001034930

NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)

SNV
Germline

ChrX:31658123

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267150

rs_398124058

2 SubmittersRCV000080774 RCV001854425

NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)

SNV
Germline

ChrX:31507416

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Duchenne muscular dystrophy
DMD-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222504

rs_373832446

7 SubmittersRCV000621258 RCV001000603 RCV001079634 RCV004737191 RCV000080790

NM_004006.3(DMD):c.8358G>A (p.Trp2786Ter)

SNV
Germline

ChrX:31507313

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398124068

1 SubmittersRCV002885035

NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)

SNV
Germline

ChrX:31496936

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222513

rs_398124071

5 SubmittersRCV000630546 RCV001826763 RCV002504994 RCV003144127 RCV003162512

NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter)

SNV
Germline

ChrX:31496892

Pathogenic

Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA267163

rs_398124072

2 SubmittersRCV000201168 RCV003389237

NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)

SNV
Germline

ChrX:31479043

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
DMD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA267169

rs_398124074

9 SubmittersRCV000080803 RCV000179204 RCV001831875 RCV004528291

NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)

SNV
Germline

ChrX:31478276

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222518

rs_116283249

7 SubmittersRCV000617868 RCV000723438 RCV001087138 RCV001167231 RCV001826765 RCV004529846

NM_004006.3(DMD):c.8852G>A (p.Arg2951His)

SNV
Germline

ChrX:31478191

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222521

rs_72466567

4 SubmittersRCV001089143 RCV001831877 RCV004019558 RCV000080814

NM_004006.3(DMD):c.8893G>A (p.Asp2965Asn)

SNV
Germline

ChrX:31478150

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222524

rs_398124077

3 SubmittersRCV002514417 RCV000080815

NM_004006.3(DMD):c.8938-3C>G

SNV
Germline

ChrX:31444630

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_398124079

2 SubmittersRCV001977664 RCV003146435

NM_004006.3(DMD):c.9225-647A>G

SNV
Germline

ChrX:31261663

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA267181

rs_398124091

5 SubmittersRCV000080835 RCV000179616 RCV001270853

NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)

SNV
Germline

ChrX:31223071

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA267182

rs_398124092

6 SubmittersRCV000179641 RCV000254753 RCV001826766

NM_004006.3(DMD):c.9361+1G>A

SNV
Germline

ChrX:31223046

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA267188

rs_398124094

5 SubmittersRCV000080839 RCV000797326 RCV001831880

NM_004006.3(DMD):c.9361+1G>C

SNV
Germline

ChrX:31223046

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267189

rs_398124094

3 SubmittersRCV000179638 RCV001854426

NM_004006.3(DMD):c.9564-1G>A

SNV
Germline

ChrX:31206668

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267190

rs_398124096

2 SubmittersRCV000080843 RCV002514418

NM_004006.3(DMD):c.961-5831C>T

SNV
Germline

ChrX:32650983

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267191

rs_398124099

4 SubmittersRCV000080848 RCV000531926 RCV002247479

NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)

SNV
Germline

ChrX:31182861

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_398124104

2 SubmittersRCV001782066 RCV002544242

NM_004006.3(DMD):c.9896A>G (p.His3299Arg)

SNV
Germline

ChrX:31182816

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_398124107

2 SubmittersRCV000705818 RCV001200315

NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)

SNV
Germline

ChrX:32573618

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Muscular dystrophy
Exertional myalgia, muscle stiffness and myoglobinuria
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Qualitative or quantitative defects of dystrophin
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA211406

rs_370644567

14 SubmittersRCV000516302 RCV000630575 RCV000223816 RCV004786398 RCV000148464 RCV000984165 RCV002408653 RCV003103987 RCV000984164

NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)

SNV
Germline

ChrX:32644145

Conflicting classifications of pathogenicity

Becker muscular dystrophy
not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA272861

rs_189143447

11 SubmittersRCV000148465 RCV000254538 RCV000183380 RCV000990731 RCV002381455 RCV001276610

NM_004006.3(DMD):c.1812+1G>A

SNV
Germline

ChrX:32573529

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Qualitative or quantitative defects of dystrophin
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA273064

rs_373286166

15 SubmittersRCV000149882 RCV000521440 RCV000201160 RCV000984163 RCV002483296 RCV001826801 RCV003155089 RCV004797784

NM_001005242.3(PKP2):c.1379-2019C>T

SNV
Germline

Chr12:32843224

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 9
Primary dilated cardiomyopathy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Brugada syndrome
Becker muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA010572

rs_149930872

12 SubmittersRCV000155807 RCV000172581 RCV000528781 RCV000577930 RCV000577936 RCV000578052 RCV000578088 RCV000577994 RCV000619186 RCV000771870

NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)

SNV
Germline

ChrX:31820041

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA233490

rs_139395045

5 SubmittersRCV000621856 RCV001079174 RCV001831946 RCV000723951

NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)

SNV
Germline

ChrX:32484967

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA273313

rs_727503850

3 SubmittersRCV000152963 RCV001388690

NM_004006.3(DMD):c.295A>G (p.Ile99Val)

SNV
Germline

ChrX:32823357

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA295602

rs_149428656

8 SubmittersRCV000212485 RCV000515266 RCV000630541 RCV000723910 RCV002433667 RCV004551317

NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)

SNV
Germline

ChrX:31478363

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA273299

rs_727503802

2 SubmittersRCV000152766 RCV001850083

NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)

SNV
Germline

ChrX:31968501

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA233495

rs_727503815

5 SubmittersRCV000152811 RCV000630533 RCV002362803

NM_004006.3(DMD):c.883C>T (p.Arg295Ter)

SNV
Germline

ChrX:32697947

Pathogenic/Likely pathogenic

Condition: not provided
Becker muscular dystrophy
DMD-related disorder
Qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA273321

rs_727503864

7 SubmittersRCV000153012 RCV002470775 RCV004724933 RCV003226216 RCV001041065

NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)

SNV
Germline

ChrX:32365035

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295588

rs_727503828

10 SubmittersRCV000212486 RCV001088504 RCV000723857 RCV002336308

NM_004006.3(DMD):c.2199C>T (p.Ser733=)

SNV
Germline

ChrX:32518101

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Dilated cardiomyopathy 3B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA233707

rs_149882431

8 SubmittersRCV000250787 RCV000630599 RCV001835693 RCV001168816 RCV001719947 RCV002426728

NM_004006.3(DMD):c.618A>G (p.Gln206=)

SNV
Germline

ChrX:32809524

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA233719

rs_727503865

3 SubmittersRCV000153014 RCV001083914 RCV002354355

NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)

SNV
Germline

ChrX:32343172

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA245528

rs_201302282

9 SubmittersRCV000157167 RCV000222591 RCV000459519 RCV000617904 RCV001719984 RCV004737245

NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)

SNV
Germline

ChrX:32545210

Conflicting classifications of pathogenicity

Condition: not provided
not specified
DMD-related disorder
Duchenne muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA236340

rs_781015830

7 SubmittersRCV000171433 RCV000259130 RCV004539577 RCV001239735 RCV002415727 RCV001168818

NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)

SNV
Germline

ChrX:32645020

Pathogenic

Condition: not provided
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA274935

rs_794726993

5 SubmittersRCV000173785 RCV000984160 RCV000984161 RCV000984162 RCV001826873

NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)

SNV
Germline

ChrX:32644177

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA274957

rs_398123853

2 SubmittersRCV000174085 RCV002470790

NM_004006.3(DMD):c.1150-2A>G

SNV
Germline

ChrX:32644315

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA274958

rs_794727030

2 SubmittersRCV000174087 RCV002517670

NM_004006.3(DMD):c.1150-4T>A

SNV
Germline

ChrX:32644317

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA239556

rs_794727031

5 SubmittersRCV000174091 RCV000724107 RCV001451060 RCV001826874 RCV002453608

NM_004006.3(DMD):c.1463G>T (p.Arg488Leu)

SNV
Germline

ChrX:32614322

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA239844

rs_794727065

2 SubmittersRCV000174328 RCV001852123

NM_004006.3(DMD):c.1704+1G>A

SNV
Germline

ChrX:32573744

Pathogenic

Condition: not provided
not specified
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275009

rs_794727123

3 SubmittersRCV000174742 RCV000506230 RCV001210378

NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)

SNV
Germline

ChrX:32545288

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA240885

rs_367769606

3 SubmittersRCV000175177 RCV001852142 RCV002485135

NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)

SNV
Germline

ChrX:32545231

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA201333

rs_202008454

8 SubmittersRCV000175178 RCV000630637 RCV000853043 RCV001168819 RCV002415750 RCV001762398 RCV001826882

NM_004006.3(DMD):c.78T>G (p.Asn26Lys)

SNV
Germline

ChrX:33020154

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA241527

rs_794727272

4 SubmittersRCV000175769 RCV003335178

NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)

SNV
Germline

ChrX:32491360

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA241939

rs_138145424

5 SubmittersRCV000223116 RCV000620846 RCV000685504 RCV000724731

NM_004006.3(DMD):c.2804-2A>T

SNV
Germline

ChrX:32472311

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275111

rs_794727357

2 SubmittersRCV000176297 RCV003512021

NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)

SNV
Germline

ChrX:32464593

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA242443

rs_747239076

4 SubmittersRCV000176480 RCV001257067 RCV001832009 RCV004537401

NM_004006.3(DMD):c.3696A>C (p.Ala1232=)

SNV
Germline

ChrX:32448546

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242774

rs_369971712

5 SubmittersRCV000176745 RCV000724117 RCV001416297 RCV001826895 RCV002345604

NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)

SNV
Germline

ChrX:32441263

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275150

rs_794727463

2 SubmittersRCV000176871 RCV001852181

NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)

SNV
Germline

ChrX:32441285

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242962

rs_760733415

10 SubmittersRCV000306607 RCV000724165 RCV001080626 RCV001826896 RCV002362899 RCV004998375

NM_004006.3(DMD):c.94-3C>T

SNV
Germline

ChrX:32849823

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA243294

rs_373907950

6 SubmittersRCV000724503 RCV001088022 RCV001271685 RCV002444708 RCV004539649

NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)

SNV
Germline

ChrX:32345981

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245012

rs_141261536

4 SubmittersRCV000630489 RCV000724575 RCV002345620

NM_004006.3(DMD):c.5481G>A (p.Leu1827=)

SNV
Germline

ChrX:32346048

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245015

rs_794727612

3 SubmittersRCV000178003 RCV001466851 RCV004992052

NM_004006.3(DMD):c.5723A>T (p.Asp1908Val)

SNV
Germline

ChrX:32343150

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA202875

rs_145266970

7 SubmittersRCV000178437 RCV000863613 RCV000853118 RCV001084570 RCV002345621

NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)

SNV
Germline

ChrX:32342154

Pathogenic

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA346882

rs_794727666

4 SubmittersRCV000178462 RCV002250590 RCV002517735

NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)

SNV
Germline

ChrX:31968382

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Primary familial dilated cardiomyopathy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA202935

rs_149322279

16 SubmittersRCV000178576 RCV000618624 RCV000786293 RCV001081226 RCV000845549 RCV001826906 RCV004539669

NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)

SNV
Germline

ChrX:31836739

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245865

rs_202090289

4 SubmittersRCV000178692 RCV001088379 RCV001826909 RCV004020130

NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)

SNV
Germline

ChrX:31729633

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246329

rs_764127932

4 SubmittersRCV000179108 RCV001084508 RCV002390438

NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala)

SNV
Germline

ChrX:31679500

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA246359

rs_773656507

3 SubmittersRCV000179127 RCV000630500 RCV001826914

NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)

SNV
Germline

ChrX:31658029

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246388

rs_144103124

5 SubmittersRCV000724591 RCV001086337 RCV001833086 RCV002408775

NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)

SNV
Germline

ChrX:31627743

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA246410

rs_750640802

4 SubmittersRCV000179162 RCV000723963 RCV001079559 RCV001833087

NM_004006.3(DMD):c.8076A>G (p.Gln2692=)

SNV
Germline

ChrX:31627814

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
not specified
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA246413

rs_144518527

7 SubmittersRCV000619660 RCV000724640 RCV001085311 RCV001833088 RCV003330538 RCV004537481

NM_004006.3(DMD):c.8226A>G (p.Gln2742=)

SNV
Germline

ChrX:31507445

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA246434

rs_746514008

7 SubmittersRCV000245458 RCV000247407 RCV000487873 RCV001085409 RCV001826915

NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)

SNV
Germline

ChrX:31478995

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275322

rs_201361100

2 SubmittersRCV000179209 RCV000179207

NM_004006.3(DMD):c.9198G>A (p.Ser3066=)

SNV
Germline

ChrX:31323624

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246901

rs_753594128

5 SubmittersRCV000179601 RCV001078477 RCV001826919 RCV003165375

NM_004006.3(DMD):c.9564-5A>G

SNV
Germline

ChrX:31206672

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246969

rs_201390145

6 SubmittersRCV000313672 RCV000723885 RCV001082624 RCV001833091 RCV002372102

NM_004006.3(DMD):c.10128A>G (p.Leu3376=)

SNV
Germline

ChrX:31178764

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247408

rs_755438733

4 SubmittersRCV000180034 RCV001078707 RCV001826920 RCV002453640

NM_004006.3(DMD):c.10554-2A>G

SNV
Germline

ChrX:31147520

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275409

rs_794727890

2 SubmittersRCV000180065 RCV002515288

NM_004006.3(DMD):c.733A>G (p.Ile245Val)

SNV
Germline

ChrX:32699210

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247616

rs_140510985

6 SubmittersRCV000630494 RCV000659150 RCV001833095 RCV002381581

NM_004006.3(DMD):c.8974G>A (p.Val2992Met)

SNV
Germline

ChrX:31444591

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA308370

rs_201691420

6 SubmittersRCV000183401 RCV000620404 RCV000630589 RCV001165645 RCV001827984

NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)

SNV
Germline

ChrX:32310147

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308410

rs_367702968

4 SubmittersRCV000230029 RCV000730253 RCV002354490

NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)

SNV
Germline

ChrX:32310266

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308358

rs_148135406

6 SubmittersRCV000405759 RCV000726721 RCV001078708 RCV001826926 RCV002354487

NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)

SNV
Germline

ChrX:32342153

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA308406

rs_755477994

5 SubmittersRCV000183418 RCV000766087 RCV001057446 RCV004537536

NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)

SNV
Germline

ChrX:32343198

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308400

rs_137898199

4 SubmittersRCV000183416 RCV000694678 RCV001273863 RCV002345641

NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)

SNV
Germline

ChrX:32362883

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308397

rs_376234802

4 SubmittersRCV000183414 RCV000527743 RCV004020212

NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)

SNV
Germline

ChrX:32362910

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Condition: not provided
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA308394

rs_147904018

8 SubmittersRCV000396354 RCV000469017 RCV000617311 RCV001835711 RCV002492828 RCV003436975 RCV004539710

NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu)

SNV
Germline

ChrX:32364639

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308355

rs_763028318

3 SubmittersRCV000183389 RCV001063145 RCV002336465

NM_004006.3(DMD):c.4973G>A (p.Ser1658Asn)

SNV
Germline

ChrX:32365072

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA308352

rs_794728999

2 SubmittersRCV000183388 RCV001852353

NM_004006.3(DMD):c.3937A>G (p.Met1313Val)

SNV
Germline

ChrX:32438375

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA308391

rs_794729003

5 SubmittersRCV000183411 RCV001827986 RCV001852354

NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)

SNV
Germline

ChrX:32463545

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308423

rs_200596739

9 SubmittersRCV000183426 RCV000513147 RCV001083491 RCV001165857 RCV002321731

NM_004006.3(DMD):c.3191T>C (p.Met1064Thr)

SNV
Germline

ChrX:32464671

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_140106769

4 SubmittersRCV000731035 RCV001241260 RCV001827985 RCV002321730

NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro)

SNV
Germline

ChrX:32468632

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308385

rs_766325631

4 SubmittersRCV000183409 RCV000766849 RCV001462983 RCV002433816

NM_004006.3(DMD):c.2824A>G (p.Met942Val)

SNV
Germline

ChrX:32472289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308343

rs_371648742

6 SubmittersRCV000183385 RCV000726566 RCV001084984 RCV001826925 RCV002433814

NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)

SNV
Germline

ChrX:32518027

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Familial restrictive cardiomyopathy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA308419

rs_750526692

8 SubmittersRCV000555681 RCV001002415 RCV000853164 RCV001168047 RCV001833105 RCV001852355 RCV002444741 RCV004539712

NM_004006.3(DMD):c.2251C>T (p.Arg751Trp)

SNV
Germline

ChrX:32518049

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308416

rs_373475448

4 SubmittersRCV000183422 RCV000208236 RCV001464816 RCV004020213

NM_004006.3(DMD):c.1823C>T (p.Ala608Val)

SNV
Germline

ChrX:32565871

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308379

rs_189896732

4 SubmittersRCV000183407 RCV001514204 RCV002408806

NM_004006.3(DMD):c.932A>G (p.Asp311Gly)

SNV
Germline

ChrX:32697898

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA308376

rs_760932600

5 SubmittersRCV000183405 RCV001088868 RCV003165401 RCV004537535

NM_004006.3(DMD):c.6614+3310G>T

SNV
Germline

ChrX:31965029

Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA347360

rs_797045526

4 SubmittersRCV000192688 RCV000727646 RCV004700578

NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)

SNV
Germline

ChrX:32438312

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347462

rs_146880270

2 SubmittersRCV000196412

NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter)

SNV
Germline

ChrX:31169492

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347545

rs_863224977

1 SubmittersRCV000201119

NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter)

SNV
Germline

ChrX:31169584

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347580

rs_863224976

1 SubmittersRCV000201187

NM_004006.3(DMD):c.10223+1G>C

SNV
Germline

ChrX:31178668

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347551

rs_398123834

2 SubmittersRCV000201125

NM_004006.3(DMD):c.8390+2T>C

SNV
Germline

ChrX:31507279

Pathogenic

Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Single Submitter

CA347514

rs_863225013

2 SubmittersRCV000201084 RCV001271297

NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)

SNV
Germline

ChrX:31507314

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347478

rs_863225012

4 SubmittersRCV000201027 RCV001781603 RCV001828037

NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)

SNV
Germline

ChrX:31627852

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA347572

rs_863225011

6 SubmittersRCV000201174 RCV000348940 RCV001192549

NM_004006.3(DMD):c.8027+2T>A

SNV
Germline

ChrX:31657988

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347521

rs_863225010

3 SubmittersRCV000201094 RCV001199880 RCV003238735

NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter)

SNV
Germline

ChrX:31679430

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347476

rs_863225009

2 SubmittersRCV000201020

NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter)

SNV
Germline

ChrX:31679492

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347558

rs_762394978

2 SubmittersRCV000201144

NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)

SNV
Germline

ChrX:31836813

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347515

rs_863225008

2 SubmittersRCV000201085 RCV000727337

NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)

SNV
Germline

ChrX:32342105

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347552

rs_863225005

4 SubmittersRCV000201134 RCV000733885

NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter)

SNV
Germline

ChrX:32343232

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347542

rs_863225004

2 SubmittersRCV000201117

NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)

SNV
Germline

ChrX:32346068

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347548

rs_863225002

1 SubmittersRCV000201122

NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)

SNV
Germline

ChrX:32348504

Pathogenic

not specified
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347488

rs_777864641

3 SubmittersRCV000506941 RCV000201039 RCV003317147

NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)

SNV
Germline

ChrX:32364605

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347522

rs_863225001

4 SubmittersRCV000201095 RCV000760389 RCV003468913

NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)

SNV
Germline

ChrX:32380626

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin
Cardiovascular phenotype
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA347565

rs_863224999

9 SubmittersRCV000201158 RCV000255348 RCV001193218 RCV002336547 RCV003997034

NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)

SNV
Germline

ChrX:32386378

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347530

rs_863224998

2 SubmittersRCV000201102 RCV000726911

NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)

SNV
Germline

ChrX:32390175

Pathogenic

Duchenne muscular dystrophy
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA347511

rs_863224997

3 SubmittersRCV000201081 RCV000508425

NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter)

SNV
Germline

ChrX:32463444

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347507

rs_863224993

2 SubmittersRCV000201074 RCV001781596

NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)

SNV
Germline

ChrX:32468669

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347538

rs_863224992

1 SubmittersRCV000201111

NM_004006.3(DMD):c.2804-2A>C

SNV
Germline

ChrX:32472311

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA347584

rs_794727357

4 SubmittersRCV000201191 RCV001781594 RCV002222440

NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)

SNV
Germline

ChrX:32484925

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347495

rs_756949497

4 SubmittersRCV000201047 RCV000726064

NM_004006.3(DMD):c.2623-3C>G

SNV
Germline

ChrX:32485102

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347541

rs_863224988

4 SubmittersRCV000201114 RCV001293467 RCV000727448

NM_004006.3(DMD):c.2611A>T (p.Lys871Ter)

SNV
Germline

ChrX:32491288

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347479

rs_863224987

1 SubmittersRCV000201029

NM_004006.3(DMD):c.2407C>T (p.Gln803Ter)

SNV
Germline

ChrX:32491492

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347577

rs_863224986

2 SubmittersRCV000201181

NM_004006.3(DMD):c.2368C>T (p.Gln790Ter)

SNV
Germline

ChrX:32501767

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347527

rs_762860653

2 SubmittersRCV000201099

NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)

SNV
Germline

ChrX:32518085

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347467

rs_863224985

3 SubmittersRCV000201007 RCV001781590

NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)

SNV
Germline

ChrX:32573766

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347533

rs_863224984

2 SubmittersRCV000201104 RCV001589082

NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)

SNV
Germline

ChrX:32573786

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347473

rs_863224983

3 SubmittersRCV000201018 RCV000729491

NM_004006.3(DMD):c.1483-1G>C

SNV
Germline

ChrX:32595877

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347502

rs_863224982

2 SubmittersRCV000518069 RCV001853223

NM_004006.3(DMD):c.1388G>A (p.Trp463Ter)

SNV
Germline

ChrX:32614397

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347470

rs_863224981

1 SubmittersRCV000201011

NM_004006.3(DMD):c.1331+1G>A

SNV
Germline

ChrX:32644131

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347557

rs_863224980

1 SubmittersRCV000201140

NM_004006.3(DMD):c.1324C>T (p.Gln442Ter)

SNV
Germline

ChrX:32644139

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347498

rs_863224979

2 SubmittersRCV000201050

NM_004006.3(DMD):c.358-2A>G

SNV
Germline

ChrX:32816642

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347561

rs_863224996

2 SubmittersRCV000201147

NM_004006.3(DMD):c.355C>T (p.Gln119Ter)

SNV
Germline

ChrX:32823297

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347503

rs_863224995

5 SubmittersRCV000201060 RCV000732472

NM_004006.3(DMD):c.265-2A>G

SNV
Germline

ChrX:32823389

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA347571

rs_863224989

1 SubmittersRCV000201171

NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)

SNV
Germline

ChrX:31478192

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA070630

rs_760516307

4 SubmittersRCV000208509 RCV000315245 RCV002444834 RCV002517392

NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)

SNV
Germline

ChrX:32441209

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA076798

rs_750349613

4 SubmittersRCV000208075 RCV000213162 RCV001513398 RCV002354585

NM_004006.3(DMD):c.799C>T (p.Gln267Ter)

SNV
Unknown

ChrX:32699144

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10575988

rs_878854383

2 SubmittersRCV000232694 RCV000990743

NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)

SNV
Germline

ChrX:31968451

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

No Assertion Criteria Provided

CA358809

rs_779739455

2 SubmittersRCV000210931 RCV000582216

NM_004006.3(DMD):c.2245A>G (p.Ile749Val)

SNV
Germline

ChrX:32518055

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379595

rs_771803281

7 SubmittersRCV000211455 RCV000374144 RCV001397433 RCV000725716 RCV001828052 RCV004992086

NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)

SNV
Germline

ChrX:31178669

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377674

rs_777510517

8 SubmittersRCV000213994 RCV000470937 RCV001528853 RCV001828075 RCV004992094

NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)

SNV
Germline

ChrX:31479069

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378030

rs_181284440

3 SubmittersRCV000222491 RCV000866461

NM_004006.3(DMD):c.6118-13T>G

SNV
Germline

ChrX:32287714

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10577164

rs_750033728

3 SubmittersRCV000215170 RCV002057166

NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)

SNV
Germline

ChrX:32346053

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378674

rs_140913030

8 SubmittersRCV000218962 RCV001087654 RCV000756029 RCV002347839 RCV004532754

NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)

SNV
Germline

ChrX:32362905

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378741

rs_144717862

3 SubmittersRCV000215284 RCV000841689 RCV001853445

NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)

SNV
Germline

ChrX:32441296

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379185

rs_151150099

5 SubmittersRCV000220066 RCV000630519 RCV001610532 RCV002354606

NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)

SNV
Germline

ChrX:32468578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379363

rs_146384458

4 SubmittersRCV000214214 RCV000727244 RCV001078952 RCV002319463

NM_004006.3(DMD):c.2950-9G>T

SNV
Germline

ChrX:32468719

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379385

rs_772822759

2 SubmittersRCV000216173 RCV001437854

NM_004006.3(DMD):c.298G>A (p.Val100Ile)

SNV
Germline

ChrX:32823354

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380189

rs_779099343

5 SubmittersRCV000219870 RCV001828073 RCV002433934 RCV002478767 RCV002517540

NM_004006.3(DMD):c.145C>T (p.Arg49Cys)

SNV
Germline

ChrX:32849769

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380250

rs_147548697

7 SubmittersRCV000214960 RCV001085127 RCV000732782 RCV001833181 RCV002390569

NM_004006.3(DMD):c.32-14A>G

SNV
Germline

ChrX:33020214

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380278

rs_367757761

3 SubmittersRCV000217758 RCV002057165

NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)

SNV
Germline

ChrX:31206651

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10377775

rs_181517869

5 SubmittersRCV000229457 RCV000764875 RCV001828115 RCV001854834 RCV002472977

NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)

SNV
Germline

ChrX:31223083

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377830

rs_201718067

5 SubmittersRCV000382296 RCV001086428 RCV001828114 RCV002372274

NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)

SNV
Germline

ChrX:31774181

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378289

rs_146817002

5 SubmittersRCV000657863 RCV001085331 RCV002378993

NM_004006.3(DMD):c.7200+9G>A

SNV
Germline

ChrX:31836709

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378325

rs_748786108

3 SubmittersRCV000290546 RCV001412524 RCV001833245

NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)

SNV
Germline

ChrX:32346023

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA10583945

rs_770845480

2 SubmittersRCV000229638

NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)

SNV
Germline

ChrX:32365175

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583946

rs_762250680

3 SubmittersRCV000229831 RCV000627236

NM_004006.3(DMD):c.3951G>A (p.Glu1317=)

SNV
Germline

ChrX:32438361

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
not specified
Cardiovascular phenotype
Condition: not provided
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379147

rs_199643655

9 SubmittersRCV000284261 RCV000339725 RCV000621050 RCV000725448 RCV001828111 RCV001084784

NM_004006.3(DMD):c.2473T>G (p.Trp825Gly)

SNV
Germline

ChrX:32491426

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379513

rs_769988372

4 SubmittersRCV000228776 RCV001828110 RCV002444899 RCV003488488

NM_004006.3(DMD):c.1705-1G>T

SNV
Germline

ChrX:32573638

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583947

rs_878854619

2 SubmittersRCV000231131 RCV003488487

NM_004006.3(DMD):c.1603-4C>A

SNV
Germline

ChrX:32573850

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379780

rs_377223643

4 SubmittersRCV000731252 RCV001080237 RCV001828108 RCV002399824

NM_004006.3(DMD):c.1504C>T (p.Gln502Ter)

SNV
Germline

ChrX:32595855

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA10583948

rs_878854618

1 SubmittersRCV000230747

NM_004006.3(DMD):c.1159A>G (p.Met387Val)

SNV
Germline

ChrX:32644304

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379951

rs_770202940

5 SubmittersRCV000229822 RCV000404721 RCV000725621 RCV003165632

NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)

SNV
Germline

ChrX:31478117

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377964

rs_142128738

5 SubmittersRCV000247702 RCV000792624 RCV001165646 RCV001828141 RCV003343731

NM_004006.3(DMD):c.8847G>A (p.Lys2949=)

SNV
Germline

ChrX:31478196

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377978

rs_185664502

5 SubmittersRCV000242908 RCV000525821 RCV000727340 RCV001828140 RCV004992135

NM_004006.3(DMD):c.960+9A>G

SNV
Germline

ChrX:32697861

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10587388

rs_886038537

4 SubmittersRCV000244751 RCV000725026 RCV001088339 RCV001828142

NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr20:33417800

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 12
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817183

rs_771180054

5 SubmittersRCV000245286 RCV000578006 RCV000578008 RCV000577950 RCV000578061 RCV001270098 RCV001859463

NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)

SNV
Germline

ChrX:31134176

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10377501

rs_759642119

3 SubmittersRCV000242239 RCV001835745 RCV002518681

NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg)

SNV
Germline

ChrX:31627678

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378131

rs_372600090

4 SubmittersRCV000242638 RCV000553196 RCV000615590 RCV003144182

NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)

SNV
Germline

ChrX:31679535

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378222

rs_371588290

4 SubmittersRCV000253476 RCV001246274 RCV001828165 RCV002494792

NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)

SNV
Germline

ChrX:31774073

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378279

rs_759274835

4 SubmittersRCV000248044 RCV001067594 RCV001828166 RCV002479986

NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)

SNV
Germline

ChrX:32346044

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Long QT syndrome
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378672

rs_754765424

11 SubmittersRCV000247130 RCV000369939 RCV000468573 RCV000853039 RCV001085412 RCV001165782 RCV001835746

NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu)

SNV
Germline

ChrX:32362897

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378740

rs_200740165

4 SubmittersRCV000244774 RCV000731031 RCV001244498 RCV001828163

NM_004006.3(DMD):c.1603-4C>G

SNV
Germline

ChrX:32573850

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379781

rs_377223643

2 SubmittersRCV000248000 RCV001466607

NM_004006.3(DMD):c.1704+3G>A

SNV
Germline

ChrX:32573742

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379764

rs_773123973

5 SubmittersRCV000250936 RCV000506220 RCV000728624 RCV001088009

NM_004006.3(DMD):c.694A>C (p.Ile232Leu)

SNV
Germline

ChrX:32699249

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380085

rs_758447768

3 SubmittersRCV000245144 RCV001833291 RCV003765561

NM_004006.3(DMD):c.1382A>G (p.Asn461Ser)

SNV
Germline

ChrX:32614403

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379867

rs_775115784

4 SubmittersRCV000252992 RCV000460191 RCV000853047 RCV003144180

NM_004006.3(DMD):c.8218-2A>G

SNV
Germline

ChrX:31507455

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10588768

rs_886039478

4 SubmittersRCV000256145 RCV002470829 RCV001828170

NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)

SNV
Germline

ChrX:32362799

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588770

rs_886039535

2 SubmittersRCV000254791 RCV002518763

NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)

SNV
Germline

ChrX:32464603

Pathogenic

Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588771

rs_886039536

4 SubmittersRCV000255926 RCV001833300 RCV001859480

NM_004006.3(DMD):c.8459G>A (p.Trp2820Ter)

SNV
Germline

ChrX:31496876

Likely pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

CA10588957

rs_886039785

1 SubmittersRCV000256452

NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)

SNV
Germline

ChrX:32565829

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603723

rs_886041344

3 SubmittersRCV000380011 RCV003512028

NM_004006.3(DMD):c.31+36947G>A

SNV
Germline

ChrX:33174335

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603815

rs_886042106

6 SubmittersRCV000341131 RCV001377027 RCV001828175 RCV002321946 RCV003469218

NM_004006.3(DMD):c.8520A>G (p.Ala2840=)

SNV
Germline

ChrX:31496815

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378057

rs_767304792

4 SubmittersRCV000304920 RCV001521958 RCV001828177 RCV002411143

NM_004006.3(DMD):c.5358T>C (p.Phe1786=)

SNV
Germline

ChrX:32348496

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10603839

rs_886042125

3 SubmittersRCV000337628 RCV002059074 RCV004609340

NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)

SNV
Germline

ChrX:32364704

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603873

rs_886042154

3 SubmittersRCV000286028 RCV002519089

NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)

SNV
Germline

ChrX:32565760

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379682

rs_147822019

12 SubmittersRCV000305211 RCV000514379 RCV001082933 RCV001833309 RCV002411145 RCV004542986

NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)

SNV
Germline

ChrX:32438353

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379144

rs_766977775

4 SubmittersRCV000314992 RCV000724947 RCV001087643 RCV003165721

NM_004006.3(DMD):c.7578G>A (p.Gln2526=)

SNV
Germline

ChrX:31729713

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378249

rs_142236825

5 SubmittersRCV000724972 RCV001088245 RCV001833314 RCV002392795

NM_004006.3(DMD):c.8829G>A (p.Thr2943=)

SNV
Germline

ChrX:31478214

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377981

rs_150766816

6 SubmittersRCV000724978 RCV001468477 RCV001828183 RCV002374454

NM_004006.3(DMD):c.7310-7A>G

SNV
Germline

ChrX:31774199

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10378290

rs_373230021

8 SubmittersRCV000309756 RCV000862414 RCV001165708 RCV001529411 RCV001833315

NM_004006.3(DMD):c.3162+4A>G

SNV
Germline

ChrX:32468494

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10379351

rs_189048508

5 SubmittersRCV000724996 RCV001087769 RCV002321948 RCV004525914

NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)

SNV
Germline

ChrX:32468613

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379367

rs_139772014

4 SubmittersRCV000289657 RCV001083952 RCV001833318 RCV002446517

NM_004006.3(DMD):c.650-7C>T

SNV
Germline

ChrX:32699300

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380093

rs_759997772

2 SubmittersRCV000262257 RCV001426523

NM_004006.3(DMD):c.1095A>C (p.Gln365His)

SNV
Germline

ChrX:32645018

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379975

rs_1800266

10 SubmittersRCV000367474 RCV000458417 RCV000618297 RCV001168120 RCV001701930

NM_004006.3(DMD):c.5076A>G (p.Thr1692=)

SNV
Germline

ChrX:32364660

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378777

rs_145181319

5 SubmittersRCV000725098 RCV001027925 RCV001080037 RCV002338825

NM_004006.3(DMD):c.7722G>C (p.Gln2574His)

SNV
Germline

ChrX:31679525

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378219

rs_368164231

5 SubmittersRCV000355167 RCV000803400 RCV001833322 RCV002401978

NM_004006.3(DMD):c.146G>A (p.Arg49His)

SNV
Germline

ChrX:32849768

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380249

rs_765584669

6 SubmittersRCV000273629 RCV000695408 RCV001828187 RCV002392799 RCV002494825

NM_004006.3(DMD):c.4941G>A (p.Thr1647=)

SNV
Germline

ChrX:32365104

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378818

rs_750090479

3 SubmittersRCV000404796 RCV001400190 RCV002338828

NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)

SNV
Germline

ChrX:31169519

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604314

rs_886042495

4 SubmittersRCV000711447 RCV001071113

NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)

SNV
Germline

ChrX:32614368

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604318

rs_886042499

3 SubmittersRCV000342446 RCV002518864

NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)

SNV
Germline

ChrX:31147478

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377564

rs_766716563

5 SubmittersRCV000391421 RCV001243918 RCV001828190 RCV002401980

NM_004006.3(DMD):c.961-6G>A

SNV
Germline

ChrX:32645158

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10604369

rs_886042535

2 SubmittersRCV000310609 RCV001490966

NM_004006.3(DMD):c.10291G>A (p.Asp3431Asn)

SNV
Germline

ChrX:31173576

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377634

rs_776084073

3 SubmittersRCV000341762 RCV003105847 RCV004021131

NM_004006.3(DMD):c.93+1G>A

SNV
Germline

ChrX:33020138

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA10604467

rs_886042604

3 SubmittersRCV000334318 RCV000379611 RCV001814144

NM_004006.3(DMD):c.10223+20G>A

SNV
Germline

ChrX:31178649

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10604513

rs_886042643

2 SubmittersRCV000327369 RCV002521900

NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)

SNV
Germline

ChrX:32364596

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604634

rs_886042747

4 SubmittersRCV000346578 RCV000391947

NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser)

SNV
Germline

ChrX:32448554

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604784

rs_886042862

3 SubmittersRCV000284752 RCV003512030 RCV004992153

NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)

SNV
Germline

ChrX:31679427

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378209

rs_72466581

5 SubmittersRCV000308930 RCV000620173 RCV001085652

NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)

SNV
Germline

ChrX:31180394

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604800

rs_886042875

2 SubmittersRCV000322331 RCV001382719

NM_004006.3(DMD):c.3375G>A (p.Ser1125=)

SNV
Germline

ChrX:32463496

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604858

rs_191164314

4 SubmittersRCV000329676 RCV001088683 RCV001828204 RCV003165736

NM_004006.3(DMD):c.8322G>T (p.Leu2774=)

SNV
Germline

ChrX:31507349

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10378094

rs_72466575

4 SubmittersRCV000364124 RCV001452835 RCV001828205

NM_004006.3(DMD):c.9479G>A (p.Arg3160His)

SNV
Germline

ChrX:31209582

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377802

rs_771392678

9 SubmittersRCV000263365 RCV000463720 RCV000725517 RCV001165643 RCV001833336 RCV002374462 RCV004535328

NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)

SNV
Germline

ChrX:31875201

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378350

rs_141151675

7 SubmittersRCV000725518 RCV001089128 RCV001167296 RCV001828207 RCV002365315

NM_004006.3(DMD):c.2937C>T (p.Leu979=)

SNV
Germline

ChrX:32472176

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379407

rs_774450833

3 SubmittersRCV000352209 RCV000725543 RCV001468972

NM_004006.3(DMD):c.457C>T (p.Gln153Ter)

SNV
Germline

ChrX:32816541

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604955

rs_886042983

5 SubmittersRCV000322545 RCV001389979 RCV004796150

NM_004006.3(DMD):c.7521C>T (p.Asn2507=)

SNV
Germline

ChrX:31773981

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378266

rs_112516305

8 SubmittersRCV000304326 RCV000619872 RCV000725558 RCV001083787 RCV001165704 RCV001833338 RCV004543055

NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)

SNV
Germline

ChrX:32441307

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10379186

rs_200213555

7 SubmittersRCV000394586 RCV000547718 RCV001169829 RCV001795483 RCV001835753

NM_004006.3(DMD):c.2988A>G (p.Leu996=)

SNV
Germline

ChrX:32468672

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379378

rs_148835707

7 SubmittersRCV000318425 RCV001081510 RCV001828210 RCV002436107 RCV004535344

NM_004006.3(DMD):c.243G>A (p.Leu81=)

SNV
Germline

ChrX:32844804

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380220

rs_748842563

4 SubmittersRCV000343938 RCV002059169 RCV002450814

NM_004006.3(DMD):c.5739+1G>T

SNV
Germline

ChrX:32343133

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10605032

rs_886043041

4 SubmittersRCV000334459 RCV001004419 RCV001833346

NM_004006.3(DMD):c.3237G>A (p.Gly1079=)

SNV
Germline

ChrX:32464625

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379325

rs_748235011

2 SubmittersRCV000359961 RCV003621523

NM_004006.3(DMD):c.10623C>T (p.Ser3541=)

SNV
Germline

ChrX:31147449

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605045

rs_886043051

2 SubmittersRCV000403637 RCV003512031

NM_004006.3(DMD):c.434G>A (p.Arg145Gln)

SNV
Germline

ChrX:32816564

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380158

rs_398123952

7 SubmittersRCV000363943 RCV001246596 RCV002328777

NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)

SNV
Germline

ChrX:32454820

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379265

rs_144667422

4 SubmittersRCV000400926 RCV001088792 RCV001835755 RCV003298339

NM_004006.3(DMD):c.3814T>C (p.Leu1272=)

SNV
Germline

ChrX:32441287

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379181

rs_746405191

5 SubmittersRCV000303979 RCV001519060 RCV001833350 RCV002356382 RCV004535347

NM_004006.3(DMD):c.8999G>A (p.Arg3000His)

SNV
Germline

ChrX:31444566

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10377939

rs_772695216

3 SubmittersRCV000323204 RCV001454556 RCV001828218

NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)

SNV
Germline

ChrX:32438376

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379150

rs_377156960

6 SubmittersRCV000290499 RCV000341663 RCV001088143 RCV001833352 RCV002374467

NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)

SNV
Germline

ChrX:32595765

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA10605246

rs_763936813

4 SubmittersRCV000351927 RCV001859630 RCV003469235 RCV003317180

NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)

SNV
Germline

ChrX:32573762

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379769

rs_145739725

8 SubmittersRCV000352738 RCV000474046 RCV001167504 RCV002411155

NM_004006.3(DMD):c.10592A>G (p.His3531Arg)

SNV
Germline

ChrX:31147480

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605380

rs_886043324

4 SubmittersRCV000357952 RCV000475495 RCV002401993

NM_004006.3(DMD):c.9093C>T (p.Val3031=)

SNV
Germline

ChrX:31348626

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377912

rs_72466563

8 SubmittersRCV000725803 RCV001081154 RCV001833358 RCV002374469 RCV004535362

NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)

SNV
Germline

ChrX:32468580

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10379364

rs_370171367

4 SubmittersRCV000725809 RCV001859643 RCV001833359

NM_004006.3(DMD):c.2967G>T (p.Leu989=)

SNV
Germline

ChrX:32468693

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605412

rs_760097427

4 SubmittersRCV000260506 RCV001082111 RCV002436112

NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)

SNV
Germline

ChrX:32518117

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379604

rs_192004962

5 SubmittersRCV000286959 RCV000725841 RCV001063135 RCV002429228

NM_004006.3(DMD):c.357+7A>G

SNV
Germline

ChrX:32823288

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605543

rs_886043456

2 SubmittersRCV000328636 RCV001081447

NM_004006.3(DMD):c.4845+8C>T

SNV
Germline

ChrX:32380502

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605546

rs_886043459

2 SubmittersRCV000283500 RCV001491179

NM_004006.3(DMD):c.6290+5G>A

SNV
Germline

ChrX:32287524

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605553

rs_886043467

3 SubmittersRCV000362808 RCV000725892 RCV003512032

NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)

SNV
Germline

ChrX:32464623

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605583

rs_886043493

6 SubmittersRCV000711453 RCV001070295 RCV001833366 RCV002446523

NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)

SNV
Germline

ChrX:32411811

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10605586

rs_886043496

3 SubmittersRCV000264926 RCV002521955

NM_004006.3(DMD):c.9165G>A (p.Thr3055=)

SNV
Germline

ChrX:31323657

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377895

rs_137905486

8 SubmittersRCV000329066 RCV000622128 RCV000725916 RCV001080762 RCV001835758 RCV004543092

NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)

SNV
Germline

ChrX:31146366

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377520

rs_368996545

6 SubmittersRCV000274960 RCV000703034 RCV000725921 RCV004992159

NM_004006.3(DMD):c.8436T>C (p.Leu2812=)

SNV
Germline

ChrX:31496899

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378066

rs_139365076

5 SubmittersRCV000725939 RCV001085883 RCV001828240 RCV002446524

NM_004006.3(DMD):c.7914T>C (p.Asp2638=)

SNV
Germline

ChrX:31658103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378184

rs_754997935

5 SubmittersRCV000300354 RCV000726070 RCV001078475 RCV001828245 RCV003165756

NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)

SNV
Germline

ChrX:31929612

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378386

rs_747055774

5 SubmittersRCV000379290 RCV000466186 RCV002365321 RCV004535401

NM_004006.3(DMD):c.2344A>C (p.Arg782=)

SNV
Germline

ChrX:32501791

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605919

rs_886043764

2 SubmittersRCV000317337 RCV002518005

NM_004006.3(DMD):c.3327T>C (p.Asn1109=)

SNV
Germline

ChrX:32463544

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10379305

rs_775591219

3 SubmittersRCV000384117 RCV001503085 RCV003114453

NM_004006.3(DMD):c.4851T>G (p.Thr1617=)

SNV
Germline

ChrX:32365194

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378835

rs_143719666

4 SubmittersRCV000338640 RCV001479908 RCV001833381 RCV002338852

NM_004006.3(DMD):c.9224+15T>A

SNV
Germline

ChrX:31323583

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605987

rs_377505638

2 SubmittersRCV000359182 RCV003512033

NM_004006.3(DMD):c.1014A>G (p.Glu338=)

SNV
Germline

ChrX:32645099

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379984

rs_758035070

4 SubmittersRCV000275363 RCV001828250 RCV001484138 RCV004021251

NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)

SNV
Germline

ChrX:32518009

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379588

rs_199588981

7 SubmittersRCV000397777 RCV000726166 RCV001081740 RCV001833382 RCV002450828

NM_004006.3(DMD):c.9987A>G (p.Leu3329=)

SNV
Germline

ChrX:31180469

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377708

rs_145595228

4 SubmittersRCV000377578 RCV001828253 RCV001469451 RCV004992162

NM_004006.3(DMD):c.9563+1G>A

SNV
Germline

ChrX:31209497

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA10606200

rs_886043989

12 SubmittersRCV000274126 RCV000726209 RCV003155153

NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser)

SNV
Germline

ChrX:31478366

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378002

rs_756160145

4 SubmittersRCV000289576 RCV001088292 RCV002374480

NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)

SNV
Germline

ChrX:31774075

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378280

rs_757394130

4 SubmittersRCV000342399 RCV001174938 RCV001088963 RCV002379147

NM_004006.3(DMD):c.9361+9T>C

SNV
Germline

ChrX:31223038

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10377824

rs_746607414

2 SubmittersRCV000304978 RCV001482381

NM_004006.3(DMD):c.7449C>T (p.Thr2483=)

SNV
Germline

ChrX:31774053

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378275

rs_766075840

5 SubmittersRCV000373348 RCV001082035 RCV001828258 RCV002379148

NM_004006.3(DMD):c.468A>C (p.Val156=)

SNV
Germline

ChrX:32816530

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10606253

rs_886044031

4 SubmittersRCV000407090 RCV000618940 RCV001274386 RCV001486144

NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)

SNV
Germline

ChrX:32389536

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606266

rs_748769566

3 SubmittersRCV000387009 RCV000726249 RCV004796155

NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)

SNV
Germline

ChrX:31658098

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Primary dilated cardiomyopathy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378183

rs_146020545

6 SubmittersRCV000341637 RCV000527970 RCV000726250 RCV001270144 RCV001833386 RCV003343745

NM_004006.3(DMD):c.1482+7G>T

SNV
Germline

ChrX:32614296

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10379847

rs_766338928

4 SubmittersRCV000401219 RCV001411296 RCV001828259

NM_004006.3(DMD):c.5530C>A (p.Arg1844=)

SNV
Germline

ChrX:32345999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378661

rs_1064325

5 SubmittersRCV000355492 RCV000726290 RCV001460348 RCV002348019

NM_004006.3(DMD):c.10911G>A (p.Ser3637=)

SNV
Germline

ChrX:31146301

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377517

rs_747939733

4 SubmittersRCV000305361 RCV001082046 RCV001828265 RCV004021273

NM_004006.3(DMD):c.626T>C (p.Ile209Thr)

SNV
Germline

ChrX:32809516

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380113

rs_372832497

6 SubmittersRCV000391044 RCV000696155 RCV001168874 RCV001835765 RCV002480044

NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)

SNV
Germline

ChrX:32573762

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379768

rs_145739725

7 SubmittersRCV000362270 RCV000766091 RCV001086639 RCV002402004

NM_004006.3(DMD):c.501G>T (p.Leu167=)

SNV
Germline

ChrX:32816497

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10380149

rs_150239235

4 SubmittersRCV000272433 RCV001088013 RCV002338857 RCV001835766

NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser)

SNV
Germline

ChrX:31658017

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378173

rs_371437381

4 SubmittersRCV000274831 RCV001828267 RCV001245262 RCV003165772

NM_004006.3(DMD):c.2637G>T (p.Arg879=)

SNV
Germline

ChrX:32485085

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10606553

rs_886044268

2 SubmittersRCV000369654 RCV001446652

NM_004006.3(DMD):c.2638C>T (p.Leu880=)

SNV
Germline

ChrX:32485084

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10606554

rs_886044269

2 SubmittersRCV000275089 RCV002059271

NM_004006.3(DMD):c.8669-1G>C

SNV
Germline

ChrX:31478375

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606618

rs_886044324

4 SubmittersRCV000284523 RCV002519333

NM_004006.3(DMD):c.5064G>T (p.Val1688=)

SNV
Germline

ChrX:32364672

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10606646

rs_886044345

2 SubmittersRCV000403678 RCV001432892

NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)

SNV
Germline

ChrX:32346065

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378676

rs_766746479

7 SubmittersRCV000356388 RCV000726437 RCV001247125 RCV004737425

NM_004006.3(DMD):c.4072-3T>C

SNV
Germline

ChrX:32411916

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10379044

rs_751657094

5 SubmittersRCV000329931 RCV000726439 RCV001078710 RCV002321964 RCV001833401

NM_004006.3(DMD):c.4773T>C (p.Asp1591=)

SNV
Germline

ChrX:32380582

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606662

rs_886044358

3 SubmittersRCV000328963 RCV001392696 RCV004021298

NM_004006.3(DMD):c.5933G>A (p.Arg1978His)

SNV
Germline

ChrX:32310266

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378563

rs_148135406

5 SubmittersRCV000274771 RCV001082959 RCV001835768 RCV002356394

NM_004006.3(DMD):c.4049G>A (p.Arg1350His)

SNV
Germline

ChrX:32438263

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10379126

rs_750981128

6 SubmittersRCV000316844 RCV002321965 RCV001339956 RCV001833402

NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)

SNV
Germline

ChrX:31836788

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378333

rs_201262489

4 SubmittersRCV000261998 RCV001078740 RCV001828275 RCV003165774

NM_004006.3(DMD):c.10465C>T (p.Arg3489Cys)

SNV
Germline

ChrX:31169531

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10377587

rs_771240938

2 SubmittersRCV000322856 RCV003512034

NM_004006.3(DMD):c.9033G>A (p.Pro3011=)

SNV
Germline

ChrX:31444532

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377935

rs_774722438

5 SubmittersRCV000307995 RCV001084949 RCV001165644 RCV001828276 RCV002374486

NM_004006.3(DMD):c.831G>A (p.Gln277=)

SNV
Germline

ChrX:32699112

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10606749

rs_398124067

2 SubmittersRCV000325471 RCV002522025

NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)

SNV
Germline

ChrX:32348510

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606778

rs_886044455

2 SubmittersRCV000384496 RCV000817852

NM_004006.3(DMD):c.2210G>A (p.Arg737His)

SNV
Germline

ChrX:32518090

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10379599

rs_773358704

6 SubmittersRCV000263149 RCV000317545 RCV001484612 RCV003298349 RCV004701395

NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)

SNV
Germline

ChrX:32343167

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378618

rs_752774864

4 SubmittersRCV000329015 RCV001231485 RCV001833409

NM_004006.3(DMD):c.8172C>T (p.Leu2724=)

SNV
Germline

ChrX:31627718

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606837

rs_886044500

3 SubmittersRCV000299536 RCV001473755 RCV002429238

NM_004006.3(DMD):c.9975-2A>C

SNV
Germline

ChrX:31180483

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606839

rs_886044502

2 SubmittersRCV000595692 RCV000726519

NM_004006.3(DMD):c.9888C>T (p.Pro3296=)

SNV
Germline

ChrX:31182824

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377728

rs_146543659

4 SubmittersRCV000270713 RCV001833410 RCV001079512 RCV002379152

NM_004006.3(DMD):c.9649+8G>A

SNV
Germline

ChrX:31206574

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10377768

rs_373703618

3 SubmittersRCV000307296 RCV001083126 RCV001833412

NM_004006.3(DMD):c.358-1G>A

SNV
Germline

ChrX:32816641

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606939

rs_886044582

2 SubmittersRCV000395728 RCV001062367

NM_004006.3(DMD):c.6614+7C>T

SNV
Germline

ChrX:31968332

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378436

rs_180719577

8 SubmittersRCV000305282 RCV000726571 RCV001088071 RCV001833414 RCV004537617

NM_004006.3(DMD):c.514C>G (p.Leu172Val)

SNV
Germline

ChrX:32816484

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380147

rs_747353479

3 SubmittersRCV000342358 RCV002522039

NM_004006.3(DMD):c.3603+7A>G

SNV
Germline

ChrX:32454655

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10607032

rs_886044663

2 SubmittersRCV000381035 RCV002518160

NM_004006.3(DMD):c.8322G>A (p.Leu2774=)

SNV
Germline

ChrX:31507349

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378093

rs_72466575

7 SubmittersRCV000726635 RCV001080858 RCV001828283 RCV002411177

NM_004006.3(DMD):c.2508T>C (p.Tyr836=)

SNV
Germline

ChrX:32491391

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10607045

rs_886044674

3 SubmittersRCV000381239 RCV000536795 RCV001833417

NM_004006.3(DMD):c.4345-8C>T

SNV
Germline

ChrX:32389682

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10607046

rs_886044675

4 SubmittersRCV000346199 RCV000726636 RCV001273873 RCV001499634

NM_004006.3(DMD):c.530+7A>T

SNV
Germline

ChrX:32816461

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10380144

rs_72470523

6 SubmittersRCV000402577 RCV000487649 RCV001080887 RCV001833485

NM_004006.3(DMD):c.10146C>G (p.Thr3382=)

SNV
Germline

ChrX:31178746

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377685

rs_766427132

4 SubmittersRCV000348269 RCV001496124 RCV001835786 RCV002328896

NM_004006.3(DMD):c.6912+7C>T

SNV
Germline

ChrX:31929589

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378383

rs_779161941

2 SubmittersRCV000386267 RCV002058827

NM_004006.3(DMD):c.4845+4A>T

SNV
Germline

ChrX:32380506

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378860

rs_368357171

3 SubmittersRCV000276487 RCV001425825 RCV002338966

NM_004006.3(DMD):c.3666T>C (p.Asn1222=)

SNV
Germline

ChrX:32448576

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
not specified
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379210

rs_373281760

8 SubmittersRCV000310255 RCV000733599 RCV000828194 RCV001086115 RCV001833484 RCV002450944

NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)

SNV
Germline

ChrX:31496826

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10654305

rs_965718917

7 SubmittersRCV000268291 RCV000732972 RCV001861352 RCV003168583

NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)

SNV
Germline

ChrX:31968498

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378454

rs_767681834

3 SubmittersRCV000389716 RCV002502413 RCV002523832

NM_004006.3(DMD):c.5964C>T (p.Asp1988=)

SNV
Germline

ChrX:32310235

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10654306

rs_1057515869

3 SubmittersRCV000336456 RCV001444991 RCV001828367

NM_004006.3(DMD):c.3921+12A>G

SNV
Germline

ChrX:32441168

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
not specified
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379169

rs_760373690

4 SubmittersRCV000391016 RCV000444331 RCV002058828 RCV003144244

NM_004006.3(DMD):c.842G>C (p.Ser281Thr)

SNV
Germline

ChrX:32697988

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380042

rs_762274027

3 SubmittersRCV000803894 RCV001697830 RCV002446637

NM_004006.3(DMD):c.2168+1G>A

SNV
Germline

ChrX:32545158

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16043316

rs_1057518207

3 SubmittersRCV000414740 RCV000541101

NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)

SNV
Germline

ChrX:31177947

Conflicting classifications of pathogenicity

Cardiomyopathy
Ptosis
Clinodactyly of the 5th finger
Proptosis
Pectus excavatum
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin
Condition: not provided
not specified
Cardiovascular phenotype
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10377653

rs_201217593

11 SubmittersRCV000415019 RCV000763208 RCV001035227 RCV001420737 RCV001764346 RCV002248648 RCV002379278 RCV003470367

NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)

SNV
Germline

ChrX:32573812

Pathogenic

6 conditions
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16043590

rs_1057518962

3 SubmittersRCV000415104 RCV001198405 RCV002521460 RCV004796172

NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)

SNV
Germline

ChrX:31836731

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16043742

rs_1057519106

5 SubmittersRCV000415746 RCV000457466 RCV001833507 RCV003298426

NM_004006.3(DMD):c.5601A>C (p.Gln1867His)

SNV
Germline

ChrX:32343272

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16043825

rs_1057519179

2 SubmittersRCV000416210 RCV003512038

NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)

SNV
Germline

ChrX:32346040

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378670

rs_369055628

7 SubmittersRCV000415647 RCV000415685 RCV000415628 RCV000513342 RCV001833509 RCV004992198

NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)

SNV
Germline

ChrX:32342264

Pathogenic

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16608442

rs_1057520764

4 SubmittersRCV000424485 RCV000620663 RCV002524857

NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)

SNV
Germline

ChrX:32472255

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Condition: not provided
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379419

rs_142133195

5 SubmittersRCV000436857 RCV000530235 RCV001828430 RCV003144261 RCV004539870

NM_004006.3(DMD):c.2846G>A (p.Ser949Asn)

SNV
Germline

ChrX:32472267

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16608445

rs_1057522383

2 SubmittersRCV000438236 RCV002521764

NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)

SNV
Germline

ChrX:32491282

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10379488

rs_200872948

8 SubmittersRCV000445178 RCV000820116 RCV000621146 RCV000727237 RCV001195878

NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)

SNV
Germline

ChrX:32595841

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379829

rs_755456119

7 SubmittersRCV000428491 RCV000727262 RCV001167508 RCV001497899 RCV001828413 RCV002392980

NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)

SNV
Germline

ChrX:32614323

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Long QT syndrome
Brugada syndrome
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
not specified

Criteria Provided
Conflicting Classifications

CA10379855

rs_758932385

8 SubmittersRCV000867437 RCV000853046 RCV001696776 RCV001833567 RCV002393052 RCV002502585 RCV004999415

NM_004006.3(DMD):c.5144A>G (p.Asp1715Gly)

SNV
Germline

ChrX:32364592

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378768

rs_151109270

3 SubmittersRCV000432972 RCV000820032 RCV002339020

NM_004006.3(DMD):c.2572A>T (p.Thr858Ser)

SNV
Germline

ChrX:32491327

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379493

rs_752670585

2 SubmittersRCV000432155 RCV000630562

NM_004006.3(DMD):c.8886C>T (p.Pro2962=)

SNV
Germline

ChrX:31478157

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377972

rs_371648038

6 SubmittersRCV000443270 RCV000726697 RCV001509680 RCV002374699 RCV001835800 RCV004539891

NM_004006.3(DMD):c.7873-6C>A

SNV
Germline

ChrX:31658150

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378193

rs_764629897

3 SubmittersRCV000427803 RCV001865379

NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)

SNV
Germline

ChrX:32287607

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378513

rs_774825173

5 SubmittersRCV000424766 RCV001460941 RCV001828420 RCV003380559 RCV003144260

NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)

SNV
Germline

ChrX:32287668

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378521

rs_140791274

4 SubmittersRCV000459246 RCV000439362 RCV001833527

NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)

SNV
Germline

ChrX:32468614

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379368

rs_199808421

4 SubmittersRCV000429074 RCV001861563 RCV001833544 RCV003437189

NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)

SNV
Germline

ChrX:32518048

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379592

rs_747802164

4 SubmittersRCV000433823 RCV001248135 RCV003144264 RCV002446738

NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)

SNV
Germline

ChrX:32645004

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10379972

rs_773299186

4 SubmittersRCV000432889 RCV001833571 RCV002526364 RCV002488986

NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)

SNV
Germline

ChrX:31146323

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16609174

rs_1057522606

6 SubmittersRCV000442608 RCV000527267 RCV000786295 RCV002429413

NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)

SNV
Germline

ChrX:31444491

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10377930

rs_778961643

3 SubmittersRCV000437257 RCV001348257 RCV003144263

NM_004006.3(DMD):c.5026-8C>T

SNV
Germline

ChrX:32364718

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16609177

rs_1057520973

3 SubmittersRCV000430237 RCV000869762

NM_004006.3(DMD):c.3604-12T>A

SNV
Germline

ChrX:32448650

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379219

rs_183613970

3 SubmittersRCV000439969 RCV002061629

NM_004006.3(DMD):c.3096C>G (p.Leu1032=)

SNV
Germline

ChrX:32468564

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379359

rs_770148717

5 SubmittersRCV000734228 RCV001085168 RCV001833560 RCV004992212

NM_004006.3(DMD):c.2166A>G (p.Lys722=)

SNV
Germline

ChrX:32545161

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379626

rs_147580966

5 SubmittersRCV000727475 RCV001081043 RCV001828443 RCV002429442

NM_004006.3(DMD):c.1889C>A (p.Thr630Lys)

SNV
Germline

ChrX:32565805

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16609180

rs_1057523223

3 SubmittersRCV000432096 RCV001861609 RCV002411381

NM_004006.3(DMD):c.884G>A (p.Arg295Gln)

SNV
Germline

ChrX:32697946

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380038

rs_377587957

5 SubmittersRCV000437740 RCV000732712 RCV001086130 RCV001828407 RCV002374644

NM_004006.3(DMD):c.10975G>A (p.Val3659Met)

SNV
Germline

ChrX:31134141

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377496

rs_768532317

5 SubmittersRCV000460936 RCV000999364 RCV001828471 RCV004022741

NM_004006.3(DMD):c.8418G>A (p.Gln2806=)

SNV
Germline

ChrX:31496917

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16616479

rs_953271494

2 SubmittersRCV000595424 RCV001440306

NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)

SNV
Germline

ChrX:31507432

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378103

rs_772732788

5 SubmittersRCV000472076 RCV000592149 RCV002481442

NM_004006.3(DMD):c.8209C>T (p.Gln2737Ter)

SNV
Germline

ChrX:31627681

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616487

rs_1060502621

1 SubmittersRCV000477000

NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)

SNV
Germline

ChrX:32364626

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616488

rs_765445866

2 SubmittersRCV000466883 RCV002461195

NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)

SNV
Germline

ChrX:32365187

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616490

rs_1060502645

1 SubmittersRCV000463648

NM_004006.3(DMD):c.7892G>A (p.Arg2631His)

SNV
Germline

ChrX:31658125

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378186

rs_748007790

4 SubmittersRCV000459837 RCV001828472 RCV003237871 RCV004022742

NM_004006.3(DMD):c.4721G>A (p.Arg1574His)

SNV
Germline

ChrX:32380634

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378879

rs_755206033

8 SubmittersRCV000593867 RCV001087423 RCV001167968 RCV001833588 RCV002339170 RCV004737533

NM_004006.3(DMD):c.4698G>A (p.Leu1566=)

SNV
Germline

ChrX:32380657

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16616494

rs_1060504680

2 SubmittersRCV000598268 RCV001418284

NM_004006.3(DMD):c.4071+1G>A

SNV
Germline

ChrX:32438240

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616496

rs_1060502643

3 SubmittersRCV000475286 RCV000596761

NM_004006.3(DMD):c.6614+2T>C

SNV
Germline

ChrX:31968337

Pathogenic

Duchenne muscular dystrophy
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA16616497

rs_1060502641

2 SubmittersRCV000473580 RCV000507494

NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)

SNV
Germline

ChrX:32441285

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616498

rs_760733415

4 SubmittersRCV000458499 RCV001833587 RCV002356685 RCV004722788

NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)

SNV
Germline

ChrX:32346070

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378678

rs_1800271

4 SubmittersRCV000458789 RCV001833599 RCV003168910 RCV003884563

NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)

SNV
Germline

ChrX:32485057

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16616505

rs_1060502639

7 SubmittersRCV000474172 RCV000757161 RCV001193188 RCV001833585 RCV004568048

NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr)

SNV
Germline

ChrX:32454819

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16616507

rs_398123940

4 SubmittersRCV000461184 RCV001165856 RCV001810955 RCV002451118

NM_004006.3(DMD):c.2202G>A (p.Trp734Ter)

SNV
Germline

ChrX:32518098

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616508

rs_1060502636

1 SubmittersRCV000458271

NM_004006.3(DMD):c.2551A>C (p.Asn851His)

SNV
Germline

ChrX:32491348

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379496

rs_753665097

3 SubmittersRCV000464830 RCV001833584 RCV002489061

NM_004006.3(DMD):c.2077C>T (p.Gln693Ter)

SNV
Germline

ChrX:32545250

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616517

rs_1060502661

1 SubmittersRCV000466434

NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)

SNV
Germline

ChrX:32573796

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616525

rs_1060502629

4 SubmittersRCV000469346 RCV000517238

NM_004006.3(DMD):c.1061G>A (p.Trp354Ter)

SNV
Germline

ChrX:32645052

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616527

rs_1060502644

1 SubmittersRCV000475363

NM_004006.3(DMD):c.832-15A>G

SNV
Germline

ChrX:32698013

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616530

rs_72470513

1 SubmittersRCV000475231

NM_004006.3(DMD):c.10797+1G>A

SNV
Germline

ChrX:31147274

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616650

rs_1060502626

1 SubmittersRCV000464915

NM_004006.3(DMD):c.9621T>A (p.Cys3207Ter)

SNV
Germline

ChrX:31206610

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616655

rs_1057524037

1 SubmittersRCV000456408

NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter)

SNV
Germline

ChrX:31478129

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616658

rs_1060502633

2 SubmittersRCV000470018 RCV001782947

NM_004006.3(DMD):c.10921+7G>T

SNV
Germline

ChrX:31146284

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616661

rs_1060504677

2 SubmittersRCV001088464 RCV003991532

NM_004006.3(DMD):c.6118-1G>A

SNV
Germline

ChrX:32287702

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616663

rs_1060502656

1 SubmittersRCV000469689

NM_004006.3(DMD):c.5647A>T (p.Lys1883Ter)

SNV
Germline

ChrX:32343226

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616669

rs_1060502623

1 SubmittersRCV000457870

NM_004006.3(DMD):c.5531G>A (p.Arg1844Gln)

SNV
Germline

ChrX:32345998

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378660

rs_751221923

3 SubmittersRCV000475860 RCV001828475 RCV002348321

NM_004006.3(DMD):c.1329C>T (p.Ser443=)

SNV
Germline

ChrX:32644134

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616679

rs_1060502631

3 SubmittersRCV000468102 RCV000999384

NM_004006.3(DMD):c.5040C>T (p.His1680=)

SNV
Germline

ChrX:32364696

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16616680

rs_72468632

3 SubmittersRCV000729142 RCV001084460 RCV001828492

NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)

SNV
Germline

ChrX:32365183

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378834

rs_377412251

4 SubmittersRCV000508246 RCV000728174 RCV001080511 RCV002339169

NM_004006.3(DMD):c.4072-1G>T

SNV
Germline

ChrX:32411914

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616681

rs_1060502637

1 SubmittersRCV000465065

NM_004006.3(DMD):c.1149+1G>A

SNV
Germline

ChrX:32644963

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616683

rs_1060502634

1 SubmittersRCV000458031

NM_004006.3(DMD):c.3603+3A>T

SNV
Germline

ChrX:32454659

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16616684

rs_1060502615

3 SubmittersRCV000473410 RCV003223641

NM_004006.3(DMD):c.2725G>A (p.Ala909Thr)

SNV
Germline

ChrX:32484997

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16616685

rs_1060502616

3 SubmittersRCV000468817 RCV001828470 RCV004992237

NM_004006.3(DMD):c.2276T>A (p.Leu759Ter)

SNV
Germline

ChrX:32518024

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA16616687

rs_1060502627

1 SubmittersRCV000472980

NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)

SNV
Germline

ChrX:32645047

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379978

rs_199981454

4 SubmittersRCV000473119 RCV001833589 RCV002411484 RCV003144269

NM_004006.3(DMD):c.8390+1G>A

SNV
Germline

ChrX:31507280

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16621360

rs_1064794569

3 SubmittersRCV000485023 RCV001061855

NM_004006.3(DMD):c.5149C>T (p.Leu1717Phe)

SNV
Germline

ChrX:32364587

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378765

rs_769383291

3 SubmittersRCV000485408 RCV003512049

NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)

SNV
Germline

ChrX:32491344

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16621364

rs_1064793964

4 SubmittersRCV000483792 RCV001042761 RCV001280673 RCV002455918

NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)

SNV
Germline

ChrX:31729736

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378250

rs_771877780

7 SubmittersRCV000489054 RCV001290983 RCV001526901 RCV002395191

NM_004006.3(DMD):c.6762+3A>T

SNV
Germline

ChrX:31932077

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA645293927

rs_1085307811

2 SubmittersRCV001248358 RCV001731717

NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)

SNV
Germline

ChrX:32438359

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10379146

rs_759820971

4 SubmittersRCV000490004 RCV001242084 RCV001273878 RCV002475963

NM_004006.3(DMD):c.3848A>G (p.Asn1283Ser)

SNV
Germline

ChrX:32441253

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379178

rs_778145106

3 SubmittersRCV000494372 RCV001082063 RCV003278842

NM_004006.3(DMD):c.8391-2A>G

SNV
Germline

ChrX:31496946

Pathogenic/Likely pathogenic

not specified
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412655700

rs_1556665303

2 SubmittersRCV000507655 RCV000546844

NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)

SNV
Germline

ChrX:32491414

Pathogenic/Likely pathogenic

not specified
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412672508

rs_753662330

4 SubmittersRCV000507981 RCV001240972 RCV001783008 RCV003470640

NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)

SNV
Germline

ChrX:31658118

Pathogenic

not specified
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412655998

rs_1556790316

2 SubmittersRCV000506980 RCV003114638

NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)

SNV
Germline

ChrX:31478163

Pathogenic

not specified
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412653956

rs_1556656184

3 SubmittersRCV000507302 RCV000733005 RCV001857264

NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)

SNV
Germline

ChrX:31627693

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412657091

rs_1556764743

2 SubmittersRCV000508341 RCV003114639

NM_004006.3(DMD):c.650-39498A>G

SNV
Germline

ChrX:32738791

Conflicting classifications of pathogenicity

Elevated circulating creatine kinase concentration
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA658658956

rs_1556980528

3 SubmittersRCV000515745 RCV001851414

NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)

SNV
Germline

ChrX:31627752

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378137

rs_758633794

8 SubmittersRCV000518551 RCV000990609 RCV000733400 RCV001834662 RCV002420297 RCV004535677

NM_004006.3(DMD):c.7661-2A>G

SNV
Germline

ChrX:31679588

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412657033

rs_1556806356

2 SubmittersRCV000516725 RCV000630493

NM_004006.3(DMD):c.7201-4A>G

SNV
Germline

ChrX:31820087

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658658945

rs_1556917126

4 SubmittersRCV000517264 RCV001438989 RCV002376952 RCV003144305

NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)

SNV
Germline

ChrX:32216931

Pathogenic

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA412660498

rs_1425702864

3 SubmittersRCV000516178 RCV001834661

NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)

SNV
Germline

ChrX:32342171

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA412664946

rs_773643220

4 SubmittersRCV000516473 RCV000693813 RCV001000720

NM_004006.3(DMD):c.5586+1G>A

SNV
Germline

ChrX:32345942

Likely pathogenic

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Single Submitter

CA412667208

rs_1557292599

2 SubmittersRCV000517883 RCV001829465

NM_004006.3(DMD):c.1310C>G (p.Ala437Gly)

SNV
Germline

ChrX:32644153

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412660867

rs_1556875180

2 SubmittersRCV000815120 RCV004732480

NM_004006.3(DMD):c.589G>T (p.Glu197Ter)

SNV
Germline

ChrX:32809553

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412673882

rs_1340365803

2 SubmittersRCV000517375 RCV000990749

NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)

SNV
Germline

ChrX:31177945

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10377651

rs_373898385

5 SubmittersRCV000522126 RCV000547278 RCV001829520

NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)

SNV
Germline

ChrX:31479076

Pathogenic

Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412654627

rs_1556656851

3 SubmittersRCV000519134 RCV001271296 RCV001857987

NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile)

SNV
Germline

ChrX:31929709

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10378400

rs_758654750

5 SubmittersRCV000520793 RCV000552438 RCV001835837 RCV002367742 RCV004800443

NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln)

SNV
Germline

ChrX:31968381

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378442

rs_756238158

5 SubmittersRCV000523655 RCV001829481 RCV002506267 RCV002527563

NM_004006.3(DMD):c.4675-11A>G

SNV
Germline

ChrX:32380691

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA658658965

rs_1557316295

2 SubmittersRCV000521536 RCV000543776

NM_004006.3(DMD):c.2362G>T (p.Val788Leu)

SNV
Germline

ChrX:32501773

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379548

rs_756267575

4 SubmittersRCV000520240 RCV000799719 RCV001829499 RCV002456009

NM_004006.3(DMD):c.1739A>G (p.Asp580Gly)

SNV
Germline

ChrX:32573603

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412673225

rs_1246969208

4 SubmittersRCV000518916 RCV001342906 RCV001834708 RCV004023615

NM_004006.3(DMD):c.940C>T (p.Arg314Trp)

SNV
Germline

ChrX:32697890

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380024

rs_764526102

4 SubmittersRCV000727306 RCV001834684 RCV003512052

NM_004006.3(DMD):c.9649+1G>A

SNV
Germline

ChrX:31206581

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412649342

rs_1556256329

1 SubmittersRCV000546250

NM_004006.3(DMD):c.7098+1G>T

SNV
Germline

ChrX:31875187

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412659855

rs_1556962223

1 SubmittersRCV000559319

NM_004006.3(DMD):c.7051T>C (p.Leu2351=)

SNV
Germline

ChrX:31875235

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378353

rs_367747168

5 SubmittersRCV000560738 RCV000597909 RCV001834735 RCV003302776

NM_004006.3(DMD):c.6615-2A>T

SNV
Germline

ChrX:31932229

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412658438

rs_1557011973

1 SubmittersRCV000549240

NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)

SNV
Germline

ChrX:32216945

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328519363

rs_1023328955

4 SubmittersRCV000557446 RCV000766086 RCV001834733 RCV002367771

NM_004006.3(DMD):c.4951G>A (p.Asp1651Asn)

SNV
Germline

ChrX:32365094

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA412672038

rs_1369953471

4 SubmittersRCV000535123 RCV000786296 RCV001273869

NM_004006.3(DMD):c.2804-1G>T

SNV
Germline

ChrX:32472310

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA412668289

rs_398123909

3 SubmittersRCV000538642 RCV000595227 RCV000984158 RCV000984159

NM_004006.3(DMD):c.938C>T (p.Thr313Ile)

SNV
Germline

ChrX:32697892

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380025

rs_201799335

3 SubmittersRCV000532829 RCV001834741 RCV003159736

NM_004006.3(DMD):c.686T>G (p.Leu229Ter)

SNV
Germline

ChrX:32699257

Pathogenic

Duchenne muscular dystrophy
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA412669106

rs_1556930769

2 SubmittersRCV000530700 RCV001002642

NM_004006.3(DMD):c.9928C>T (p.Gln3310Ter)

SNV
Germline

ChrX:31182784

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA328405792

rs_104894789

1 SubmittersRCV000535740

NM_004006.3(DMD):c.8983G>A (p.Val2995Ile)

SNV
Germline

ChrX:31444582

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377941

rs_148643665

4 SubmittersRCV000541472 RCV000786300 RCV001835844 RCV002376999

NM_004006.3(DMD):c.8643A>G (p.Leu2881=)

SNV
Germline

ChrX:31479008

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378025

rs_747605156

4 SubmittersRCV000593600 RCV001087437 RCV001834737 RCV002376996

NM_004006.3(DMD):c.8547+1G>A

SNV
Germline

ChrX:31496787

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412655349

rs_1556665052

1 SubmittersRCV000531041

NM_004006.3(DMD):c.5739+8T>C

SNV
Germline

ChrX:32343126

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA640962843

rs_1321625981

3 SubmittersRCV000543252 RCV001834732 RCV003987582

NM_004006.3(DMD):c.4497G>A (p.Gln1499=)

SNV
Germline

ChrX:32389522

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA515715168

rs_1417062461

2 SubmittersRCV000540296 RCV002473046

NM_004006.3(DMD):c.3432+2036A>G

SNV
Germline

ChrX:32461403

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA658658948

rs_182575709

6 SubmittersRCV000012039 RCV000537797 RCV001539084 RCV002341259 RCV004537895

NM_004006.3(DMD):c.2297T>C (p.Ile766Thr)

SNV
Germline

ChrX:32501838

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412673722

rs_1443021146

3 SubmittersRCV000529606 RCV001834724 RCV002448611

NM_004006.3(DMD):c.1865C>A (p.Ser622Ter)

SNV
Germline

ChrX:32565829

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412672846

rs_886041344

1 SubmittersRCV000559980

NM_004006.3(DMD):c.1309G>C (p.Ala437Pro)

SNV
Germline

ChrX:32644154

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379930

rs_748964279

3 SubmittersRCV000540670 RCV000619591 RCV001834721

NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)

SNV
Germline

ChrX:31223070

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412650856

rs_1556320083

6 SubmittersRCV000554971 RCV000788497 RCV001834740 RCV002377000 RCV002470903 RCV003470720

NM_004006.3(DMD):c.6424A>T (p.Lys2142Ter)

SNV
Germline

ChrX:32216930

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412660494

rs_1557218076

1 SubmittersRCV000535811

NM_004006.3(DMD):c.831+1G>A

SNV
Germline

ChrX:32699111

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412668778

rs_1239018406

1 SubmittersRCV000554085

NM_004006.3(DMD):c.186+1G>A

SNV
Germline

ChrX:32849727

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412674811

rs_1557084067

2 SubmittersRCV000549989

NM_004006.3(DMD):c.10109G>C (p.Arg3370Pro)

SNV
Germline

ChrX:31178783

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412652922

rs_1556037455

1 SubmittersRCV000531520

NM_004006.3(DMD):c.6614+7C>A

SNV
Germline

ChrX:31968332

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378437

rs_180719577

3 SubmittersRCV000592818 RCV001080691 RCV001829555

NM_004006.3(DMD):c.5946G>A (p.Met1982Ile)

SNV
Germline

ChrX:32310253

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412670157

rs_1241760732

3 SubmittersRCV000531367 RCV001829552 RCV004992313

NM_004006.3(DMD):c.4561A>G (p.Met1521Val)

SNV
Germline

ChrX:32386423

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378919

rs_757350813

4 SubmittersRCV000533577 RCV000594460 RCV001829547 RCV004609424

NM_004006.3(DMD):c.1582G>A (p.Ala528Thr)

SNV
Germline

ChrX:32595777

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379809

rs_201067368

3 SubmittersRCV000592711 RCV001083902 RCV004023728

NM_004006.3(DMD):c.7310-1G>A

SNV
Germline

ChrX:31774193

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412659203

rs_1556880354

3 SubmittersRCV000581374 RCV000583728

NM_004006.3(DMD):c.2669T>A (p.Leu890Ter)

SNV
Germline

ChrX:32485053

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

No Assertion Criteria Provided

CA412670993

rs_1557380616

1 SubmittersRCV000582450 RCV000584311

NM_004006.3(DMD):c.2292+2T>G

SNV
Germline

ChrX:32518006

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412663580

rs_1557396600

1 SubmittersRCV000585714

NM_004006.3(DMD):c.4302G>C (p.Lys1434Asn)

SNV
Germline

ChrX:32390113

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378993

rs_749556197

3 SubmittersRCV000592278 RCV002530962 RCV003302907

NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)

SNV
Germline

ChrX:32386366

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412662587

rs_1557320151

2 SubmittersRCV000591669 RCV000820684

NM_004006.3(DMD):c.1602+1G>T

SNV
Germline

ChrX:32595756

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412665244

rs_1057517960

3 SubmittersRCV000593877 RCV001854000

NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)

SNV
Germline

ChrX:32595786

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379812

rs_754158494

5 SubmittersRCV000591078 RCV002395514 RCV002532367

NM_004006.3(DMD):c.31+10A>G

SNV
Germline

ChrX:33211272

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA641257903

rs_1465099653

2 SubmittersRCV000595901 RCV001426223

NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)

SNV
Germline

ChrX:31627807

Conflicting classifications of pathogenicity

Condition: not provided
Heart failure
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378140

rs_755445214

6 SubmittersRCV000597484 RCV000853037 RCV001080147 RCV001829638 RCV002420567

NM_004006.3(DMD):c.923C>A (p.Thr308Asn)

SNV
Germline

ChrX:32697907

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380028

rs_145064612

5 SubmittersRCV000593736 RCV001057556 RCV001835861 RCV003160009

NM_004006.3(DMD):c.8958G>A (p.Ala2986=)

SNV
Germline

ChrX:31444607

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377945

rs_755815057

5 SubmittersRCV000591694 RCV001084795 RCV001829639 RCV002448829 RCV004543320

NM_004006.3(DMD):c.3450G>A (p.Glu1150=)

SNV
Germline

ChrX:32454815

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379263

rs_142967431

5 SubmittersRCV000597879 RCV001078543 RCV001834867 RCV002460092

NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)

SNV
Germline

ChrX:31348628

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377913

rs_143426249

6 SubmittersRCV000595090 RCV001083583 RCV001834873 RCV002377230

NM_004006.3(DMD):c.9677C>T (p.Thr3226Ile)

SNV
Germline

ChrX:31204091

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10377755

rs_755943193

2 SubmittersRCV000598242 RCV002065151

NM_004006.3(DMD):c.7602C>T (p.Ala2534=)

SNV
Germline

ChrX:31729689

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378244

rs_748309027

5 SubmittersRCV000594188 RCV000726825 RCV001083037 RCV001834874 RCV002395523

NM_004006.3(DMD):c.2249T>C (p.Phe750Ser)

SNV
Germline

ChrX:32518051

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379593

rs_377539940

4 SubmittersRCV000591854 RCV000696509 RCV001829644 RCV002431747

NM_004006.3(DMD):c.6033A>G (p.Leu2011=)

SNV
Germline

ChrX:32310166

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378555

rs_772889861

3 SubmittersRCV000592988 RCV001834875 RCV001520191

NM_004006.3(DMD):c.445C>A (p.Arg149Ser)

SNV
Germline

ChrX:32816553

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380156

rs_774139970

3 SubmittersRCV000592743 RCV001523587 RCV002331012

NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)

SNV
Germline

ChrX:32699122

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380069

rs_745868830

8 SubmittersRCV000596666 RCV000990742 RCV001193796 RCV001834876 RCV002431748

NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)

SNV
Germline

ChrX:32645055

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379980

rs_374713915

3 SubmittersRCV000596128 RCV001242280

NM_004006.3(DMD):c.10608G>A (p.Leu3536=)

SNV
Germline

ChrX:31147464

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10377562

rs_773786369

3 SubmittersRCV000591316 RCV001414365 RCV001835866

NM_004006.3(DMD):c.3417T>C (p.Asp1139=)

SNV
Germline

ChrX:32463454

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA515715411

rs_1557369377

2 SubmittersRCV000597940 RCV001433240

NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)

SNV
Germline

ChrX:31968409

Pathogenic

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412659615

rs_1557038061

3 SubmittersRCV000591973 RCV002368009 RCV003325968

NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)

SNV
Germline

ChrX:32386393

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412662653

rs_1557320194

4 SubmittersRCV000595716 RCV000990659

NM_004006.3(DMD):c.4518G>A (p.Val1506=)

SNV
Germline

ChrX:32389501

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA515715157

rs_1557322177

2 SubmittersRCV000597814 RCV002532449

NM_004006.3(DMD):c.8706G>A (p.Arg2902=)

SNV
Germline

ChrX:31478337

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA328434466

rs_899851642

5 SubmittersRCV000591589 RCV001084887 RCV001834887 RCV003343932 RCV004543352

NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)

SNV
Germline

ChrX:31478153

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA328434400

rs_368114420

5 SubmittersRCV000594752 RCV001854037 RCV002377232 RCV004737865

NM_004006.3(DMD):c.159C>A (p.Leu53=)

SNV
Germline

ChrX:32849755

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380248

rs_762245872

4 SubmittersRCV000596887 RCV001480995 RCV003160023

NM_004006.3(DMD):c.1057T>C (p.Ser353Pro)

SNV
Germline

ChrX:32645056

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379981

rs_753289586

3 SubmittersRCV000592456 RCV002532459 RCV003160024

NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)

SNV
Germline

ChrX:32468692

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412667159

rs_1233380601

2 SubmittersRCV000595270 RCV001854045

NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)

SNV
Germline

ChrX:32348447

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412667762

rs_1557294228

2 SubmittersRCV000592740 RCV003225949

NM_004006.3(DMD):c.1603-6C>T

SNV
Germline

ChrX:32573852

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379782

rs_774626474

4 SubmittersRCV000594742 RCV001080417 RCV001829653 RCV004530689

NM_004006.3(DMD):c.863G>C (p.Arg288Thr)

SNV
Germline

ChrX:32697967

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380040

rs_767304770

7 SubmittersRCV000594236 RCV001078515 RCV001829655 RCV002377235

NM_004006.3(DMD):c.8218-5T>C

SNV
Germline

ChrX:31507458

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378108

rs_183643245

4 SubmittersRCV000592253 RCV001085740 RCV001829656 RCV003302914

NM_004006.3(DMD):c.8913C>T (p.Leu2971=)

SNV
Germline

ChrX:31478130

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377967

rs_780354925

3 SubmittersRCV000595540 RCV002532506 RCV004992375

NM_004006.3(DMD):c.1536C>A (p.His512Gln)

SNV
Germline

ChrX:32595823

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379826

rs_776446238

7 SubmittersRCV000596734 RCV001066227 RCV001829661 RCV002483620 RCV004024789

NM_004006.3(DMD):c.7956T>C (p.Ser2652=)

SNV
Germline

ChrX:31658061

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378181

rs_757902182

4 SubmittersRCV000591422 RCV001444349 RCV001834898 RCV002420576

NM_004006.3(DMD):c.10086+1G>T

SNV
Germline

ChrX:31180369

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412652981

rs_398123828

3 SubmittersRCV000595968 RCV000990566

NM_004006.3(DMD):c.283G>T (p.Gly95Ter)

SNV
Germline

ChrX:32823369

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412674570

rs_1557058415

2 SubmittersRCV000594366 RCV001390176

NM_004006.3(DMD):c.1098A>T (p.Gly366=)

SNV
Germline

ChrX:32645015

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA328544802

rs_72470507

5 SubmittersRCV000591427 RCV000990736 RCV001731803

NM_004006.3(DMD):c.8508C>T (p.Gly2836=)

SNV
Germline

ChrX:31496827

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378059

rs_374374549

6 SubmittersRCV000596232 RCV001088390 RCV001834904 RCV004609451

NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)

SNV
Germline

ChrX:32343274

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378631

rs_144718274

5 SubmittersRCV000593288 RCV000706382 RCV001829679 RCV002350429

NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)

SNV
Germline

ChrX:31729706

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
not specified

Criteria Provided
Conflicting Classifications

CA10378248

rs_771509836

6 SubmittersRCV000591545 RCV000694041 RCV001834905 RCV002395538 RCV002498865 RCV004782466

NM_004006.3(DMD):c.5740-5A>G

SNV
Germline

ChrX:32342287

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA327981730

rs_202014758

3 SubmittersRCV000597037 RCV001462558 RCV002350430

NM_004006.3(DMD):c.693C>T (p.Tyr231=)

SNV
Germline

ChrX:32699250

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380086

rs_374222301

2 SubmittersRCV000592470 RCV001403185

NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)

SNV
Germline

ChrX:31836759

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne and Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412659306

rs_1556930579

4 SubmittersRCV000593336 RCV001729648 RCV002368028 RCV003225950

NM_004006.3(DMD):c.4995C>T (p.Ser1665=)

SNV
Germline

ChrX:32365050

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378812

rs_775659020

4 SubmittersRCV000595108 RCV001079451 RCV001829685 RCV002341533

NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)

SNV
Germline

ChrX:31507452

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378106

rs_771051897

4 SubmittersRCV000614903 RCV001860335 RCV002431816

NM_004006.3(DMD):c.4846-5C>T

SNV
Germline

ChrX:32365204

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA658799692

rs_1557305776

3 SubmittersRCV001707756 RCV002063192 RCV004767435

NM_004006.3(DMD):c.4090T>G (p.Leu1364Val)

SNV
Germline

ChrX:32411895

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412666663

rs_1252905257

3 SubmittersRCV000616380 RCV001829724 RCV003117410

NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)

SNV
Germline

ChrX:32468656

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 1A
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412667076

rs_1244241099

5 SubmittersRCV000614194 RCV001050261 RCV001256878 RCV002438577

NM_004006.3(DMD):c.956C>T (p.Ser319Leu)

SNV
Germline

ChrX:32697874

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380021

rs_765986138

4 SubmittersRCV000602771 RCV001168122 RCV001829718 RCV002529409

NM_004006.3(DMD):c.125G>A (p.Ser42Asn)

SNV
Germline

ChrX:32849789

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412674937

rs_1557084218

2 SubmittersRCV000611776 RCV002528702

NM_004006.3(DMD):c.9287-8C>T

SNV
Germline

ChrX:31223129

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10377833

rs_371035624

4 SubmittersRCV000730560 RCV001085435 RCV001834939

NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)

SNV
Germline

ChrX:31679535

Conflicting classifications of pathogenicity

not specified
Primary familial dilated cardiomyopathy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378223

rs_371588290

5 SubmittersRCV000606619 RCV000845460 RCV001834944 RCV001860317 RCV003144392

NM_004006.3(DMD):c.4046C>G (p.Ser1349Cys)

SNV
Germline

ChrX:32438266

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379127

rs_763514033

3 SubmittersRCV000610735 RCV001223511 RCV003162743

NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)

SNV
Germline

ChrX:32438326

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379136

rs_770827878

4 SubmittersRCV000606990 RCV000762616 RCV001456759 RCV001834940

NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)

SNV
Germline

ChrX:31169554

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377589

rs_368594777

5 SubmittersRCV000612873 RCV001046093 RCV003144391 RCV004024964

NM_004006.3(DMD):c.9564-3T>C

SNV
Germline

ChrX:31206670

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA658799637

rs_1556257538

2 SubmittersRCV000606161 RCV001209257

NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)

SNV
Germline

ChrX:32463588

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379308

rs_183819382

4 SubmittersRCV001707829 RCV001834945 RCV002528581 RCV003380638

NM_004006.3(DMD):c.3030G>A (p.Ala1010=)

SNV
Germline

ChrX:32468630

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379370

rs_72468666

6 SubmittersRCV000610644 RCV001167430 RCV001515770 RCV001829733 RCV002438610 RCV004533270

NM_004006.3(DMD):c.554G>A (p.Ser185Asn)

SNV
Germline

ChrX:32809588

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412673954

rs_1168876204

4 SubmittersRCV000602873 RCV001834948 RCV002343164 RCV002531670

NM_004006.3(DMD):c.247G>A (p.Val83Ile)

SNV
Germline

ChrX:32844800

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412674667

rs_1358774744

3 SubmittersRCV000605014 RCV001829725 RCV004609456

NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)

SNV
Germline

ChrX:31627837

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
not specified
Conduction disorder of the heart
Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378144

rs_748937055

8 SubmittersRCV000620588 RCV000701669 RCV001002643 RCV001256881 RCV001356225 RCV001829737 RCV002483706

NM_004006.3(DMD):c.7359A>G (p.Glu2453=)

SNV
Germline

ChrX:31774143

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378284

rs_780283825

5 SubmittersRCV000617621 RCV000990618 RCV001165707 RCV001829742

NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr)

SNV
Germline

ChrX:32362843

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378736

rs_201516290

3 SubmittersRCV000620543 RCV001244304 RCV002498994

NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)

SNV
Germline

ChrX:32438330

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
not specified
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379138

rs_745640786

5 SubmittersRCV000620924 RCV001211852 RCV001375537 RCV001829741 RCV002483710

NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)

SNV
Germline

ChrX:32464630

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
not specified
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379326

rs_375329908

5 SubmittersRCV000618045 RCV000811104 RCV001194450 RCV001834964 RCV002477343

NM_004006.3(DMD):c.2260G>T (p.Gly754Cys)

SNV
Germline

ChrX:32518040

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379590

rs_369017141

2 SubmittersRCV000621763 RCV000705235

NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)

SNV
Germline

ChrX:32573593

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379739

rs_775846754

4 SubmittersRCV000618573 RCV001056880 RCV001834969 RCV002483707

NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)

SNV
Germline

ChrX:31223056

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Condition: not provided
Primary familial dilated cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377828

rs_200928985

6 SubmittersRCV000764876 RCV000864788 RCV000624887 RCV001086344 RCV002448913

NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)

SNV
Germline

ChrX:32380517

Pathogenic

Calf muscle hypertrophy
Abnormal muscle fiber dystrophin expression
Progressive muscle weakness
Primary dilated cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412660945

rs_1557315928

2 SubmittersRCV000626857 RCV003512069

NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter)

SNV
Germline

ChrX:31627813

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412657352

rs_1556764922

2 SubmittersRCV000627386 RCV003767845

NM_004006.3(DMD):c.7032A>G (p.Leu2344=)

SNV
Germline

ChrX:31875254

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA515859508

rs_1556962392

4 SubmittersRCV001167298 RCV001445702 RCV001829768 RCV003162791

NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter)

SNV
Germline

ChrX:32216946

Pathogenic

Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA412660535

rs_1557218131

2 SubmittersRCV000630536 RCV003155255

NM_004006.3(DMD):c.3713A>G (p.Lys1238Arg)

SNV
Germline

ChrX:32448529

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379202

rs_150333718

3 SubmittersRCV000630496 RCV001835882 RCV004025382

NM_004006.3(DMD):c.3268C>T (p.Gln1090Ter)

SNV
Germline

ChrX:32464594

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412664712

rs_1557369991

1 SubmittersRCV000630553

NM_004006.3(DMD):c.2949+1G>A

SNV
Germline

ChrX:32472163

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412667693

rs_1557374482

3 SubmittersRCV000630515 RCV001784192

NM_004006.3(DMD):c.2776C>T (p.Gln926Ter)

SNV
Germline

ChrX:32484946

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412670691

rs_1055371114

1 SubmittersRCV000630530

NM_004006.3(DMD):c.9975-1G>A

SNV
Germline

ChrX:31180482

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412653250

rs_1556040444

2 SubmittersRCV000630540 RCV001784197

NM_004006.3(DMD):c.5602A>T (p.Arg1868Ter)

SNV
Germline

ChrX:32343271

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412666426

rs_1557291229

1 SubmittersRCV000630547

NM_004006.3(DMD):c.4762G>T (p.Ala1588Ser)

SNV
Germline

ChrX:32380593

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378868

rs_749732729

4 SubmittersRCV000630512 RCV001829752 RCV002334055 RCV004568368

NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter)

SNV
Germline

ChrX:32411754

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412665956

rs_1010666282

2 SubmittersRCV000630498

NM_004006.3(DMD):c.3663A>G (p.Val1221=)

SNV
Germline

ChrX:32448579

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379211

rs_750549006

5 SubmittersRCV001089181 RCV000732779 RCV001829767 RCV004992411

NM_004006.3(DMD):c.7450G>C (p.Asp2484His)

SNV
Germline

ChrX:31774052

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378274

rs_773102625

3 SubmittersRCV000630574 RCV001834995 RCV002385979

NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter)

SNV
Germline

ChrX:32362847

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412671117

rs_1557303544

2 SubmittersRCV000630559

NM_004006.3(DMD):c.1992+1G>T

SNV
Germline

ChrX:32565701

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412671715

rs_1556802319

1 SubmittersRCV000630572

NM_004006.3(DMD):c.323T>C (p.Leu108Pro)

SNV
Germline

ChrX:32823329

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412674484

rs_1557058350

1 SubmittersRCV000630561

NM_004006.3(DMD):c.10783C>T (p.Gln3595Ter)

SNV
Germline

ChrX:31147289

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412649008

rs_1385794215

1 SubmittersRCV000630504

NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)

SNV
Germline

ChrX:31323639

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412651708

rs_1556503937

3 SubmittersRCV000630551

NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr)

SNV
Germline

ChrX:31507437

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328438215

rs_367735348

3 SubmittersRCV000630571 RCV001829760 RCV002413797

NM_004006.3(DMD):c.8027+1G>A

SNV
Germline

ChrX:31657989

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412655709

rs_1556789913

2 SubmittersRCV000630556

NM_004006.3(DMD):c.4501C>T (p.Gln1501Ter)

SNV
Germline

ChrX:32389518

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412662973

rs_1557322201

1 SubmittersRCV000630518

NM_004006.3(DMD):c.2764T>G (p.Phe922Val)

SNV
Germline

ChrX:32484958

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379443

rs_185395584

3 SubmittersRCV000630507 RCV002492943 RCV003302981

NM_004006.3(DMD):c.1366A>T (p.Lys456Ter)

SNV
Germline

ChrX:32614419

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412670345

rs_1556853298

2 SubmittersRCV000630521 RCV004721501

NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)

SNV
Germline

ChrX:32644171

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412660927

rs_1556875224

3 SubmittersRCV000630516 RCV001254066

NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)

SNV
Germline

ChrX:32645038

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412661971

rs_1556876346

2 SubmittersRCV000630548 RCV001509114

NM_004006.3(DMD):c.31+1G>C

SNV
Germline

ChrX:33211281

Pathogenic

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA412675097

rs_398123923

2 SubmittersRCV000630510 RCV002325205

NM_004006.3(DMD):c.1602G>A (p.Lys534=)

SNV
Germline

ChrX:32595757

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1556834513

2 SubmittersRCV000658058 RCV001051973

NM_004006.3(DMD):c.7660+1G>C

SNV
Germline

ChrX:31729630

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1556852444

3 SubmittersRCV000659149 RCV001861709 RCV002249388

NM_004006.3(DMD):c.9807+5G>A

SNV
Germline

ChrX:31203956

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569460607

1 SubmittersRCV000701414

NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)

SNV
Germline

ChrX:31348619

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Qualitative or quantitative defects of dystrophin
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569530432

9 SubmittersRCV000690515 RCV000711471 RCV001293608 RCV003303125

NM_004006.3(DMD):c.7597G>A (p.Ala2533Thr)

SNV
Germline

ChrX:31729694

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_369583884

3 SubmittersRCV000689796 RCV001830501 RCV004026338

NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)

SNV
Germline

ChrX:31820032

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569451994

2 SubmittersRCV000707095 RCV000731546

NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)

SNV
Germline

ChrX:31820037

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569452000

1 SubmittersRCV000689427

NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg)

SNV
Germline

ChrX:31929645

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

rs_762708936

4 SubmittersRCV000695263 RCV001825359 RCV002369885 RCV002493199

NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)

SNV
Germline

ChrX:31968489

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_892121336

4 SubmittersRCV000706797 RCV001835932 RCV002261195

NM_004006.3(DMD):c.3020C>A (p.Ser1007Ter)

SNV
Germline

ChrX:32468640

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_144732570

1 SubmittersRCV000696099

NM_004006.3(DMD):c.1841A>C (p.Lys614Thr)

SNV
Germline

ChrX:32565853

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_771660778

3 SubmittersRCV000685320 RCV001165931 RCV004026193

NM_004006.3(DMD):c.9224+1G>A

SNV
Germline

ChrX:31323597

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569526122

1 SubmittersRCV000698498

NM_004006.3(DMD):c.3679C>T (p.Gln1227Ter)

SNV
Germline

ChrX:32448563

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569562941

1 SubmittersRCV000693959

NM_004006.3(DMD):c.2900T>G (p.Leu967Arg)

SNV
Germline

ChrX:32472213

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_766400327

3 SubmittersRCV000685403 RCV001829891 RCV002440419

NM_004006.3(DMD):c.1619G>A (p.Trp540Ter)

SNV
Germline

ChrX:32573830

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569230406

1 SubmittersRCV000703495

NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)

SNV
Germline

ChrX:32595773

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_889238270

5 SubmittersRCV000705601 RCV001192550 RCV001835931 RCV001766557 RCV002397479

NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly)

SNV
Germline

ChrX:31178681

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745766977

4 SubmittersRCV000687497 RCV001271294 RCV002397374 RCV003489805

NM_004006.3(DMD):c.7783G>T (p.Val2595Phe)

SNV
Germline

ChrX:31679464

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1254164861

3 SubmittersRCV000687333 RCV001829898 RCV004993944

NM_004006.3(DMD):c.5154+2T>C

SNV
Germline

ChrX:32364580

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569559822

1 SubmittersRCV000698568

NM_004006.3(DMD):c.3674T>C (p.Ile1225Thr)

SNV
Germline

ChrX:32448568

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_757482211

3 SubmittersRCV000698167 RCV001825371 RCV002343498

NM_004006.3(DMD):c.2912A>T (p.Asp971Val)

SNV
Germline

ChrX:32472201

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_762154042

5 SubmittersRCV000694095 RCV000766089 RCV001825355 RCV003144525 RCV004609491

NM_004006.3(DMD):c.657T>A (p.Asp219Glu)

SNV
Germline

ChrX:32699286

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_771312947

3 SubmittersRCV000704007 RCV001825390 RCV002360816

NM_004006.3(DMD):c.531-1G>C

SNV
Germline

ChrX:32809612

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569526579

2 SubmittersRCV000693051

NM_004006.3(DMD):c.9094G>A (p.Glu3032Lys)

SNV
Germline

ChrX:31348625

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_72466562

3 SubmittersRCV000697653 RCV001830532 RCV002442483

NM_004006.3(DMD):c.8655C>A (p.Tyr2885Ter)

SNV
Germline

ChrX:31478996

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569546174

1 SubmittersRCV000700569

NM_004006.3(DMD):c.7450G>A (p.Asp2484Asn)

SNV
Germline

ChrX:31774052

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773102625

3 SubmittersRCV000686901 RCV001829895 RCV003144488

NM_004006.3(DMD):c.5026-2A>G

SNV
Germline

ChrX:32364712

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569559849

2 SubmittersRCV000691896

NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg)

SNV
Germline

ChrX:32389514

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_745462674

3 SubmittersRCV000691402 RCV001830505 RCV003886430

NM_004006.3(DMD):c.3742C>T (p.Gln1248Ter)

SNV
Germline

ChrX:32448500

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569562936

2 SubmittersRCV000697112 RCV004702341

NM_004006.3(DMD):c.3604-1G>C

SNV
Germline

ChrX:32448639

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569562952

1 SubmittersRCV000701455

NM_004006.3(DMD):c.1006G>T (p.Glu336Ter)

SNV
Germline

ChrX:32645107

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057522454

2 SubmittersRCV000698005

NM_004006.3(DMD):c.918T>A (p.Tyr306Ter)

SNV
Germline

ChrX:32697912

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_149106712

1 SubmittersRCV000697322

NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)

SNV
Germline

ChrX:31169450

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569401103

3 SubmittersRCV000711448 RCV001861962

NM_004006.3(DMD):c.4409G>A (p.Arg1470His)

SNV
Germline

ChrX:32389610

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_752129019

5 SubmittersRCV000711458 RCV000797096 RCV001825418 RCV004026804

NM_004006.3(DMD):c.3603+1G>T

SNV
Germline

ChrX:32454661

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1209389771

4 SubmittersRCV000711454 RCV000990682

NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)

SNV
Germline

ChrX:32463513

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569563678

3 SubmittersRCV000714701 RCV001814224

NM_004006.3(DMD):c.4486G>T (p.Glu1496Ter)

SNV
Germline

ChrX:32389533

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569560739

1 SubmittersRCV000767858

NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)

SNV
Germline

ChrX:31478268

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_868688877

2 SubmittersRCV000727668 RCV000810778

NM_004006.3(DMD):c.1652G>A (p.Trp551Ter)

SNV
Germline

ChrX:32573797

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569230215

2 SubmittersRCV000727959 RCV000755045

NM_004006.3(DMD):c.579A>T (p.Thr193=)

SNV
Germline

ChrX:32809563

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_766344083

4 SubmittersRCV000727960 RCV001521665 RCV001825444 RCV002352238

NM_004006.3(DMD):c.4605G>A (p.Thr1535=)

SNV
Germline

ChrX:32386379

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_374871728

4 SubmittersRCV000728217 RCV001083189 RCV001830597 RCV002334408

NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)

SNV
Germline

ChrX:32464642

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569563751

3 SubmittersRCV000728293 RCV001868930 RCV002442551

NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)

SNV
Germline

ChrX:32348483

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569559204

7 SubmittersRCV000728336 RCV000990647 RCV001825446

NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)

SNV
Germline

ChrX:31658007

Pathogenic

Condition: not provided
Qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569186252

3 SubmittersRCV000728338 RCV001192551 RCV002533089

NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)

SNV
Germline

ChrX:31478338

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_754308757

5 SubmittersRCV000728530 RCV000795661 RCV002369988

NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)

SNV
Germline

ChrX:32342155

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569558906

2 SubmittersRCV000728846 RCV000824292

NM_004006.3(DMD):c.264+1G>A

SNV
Germline

ChrX:32844782

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569533147

2 SubmittersRCV000728957 RCV003512073

NM_004006.3(DMD):c.9150G>A (p.Gln3050=)

SNV
Germline

ChrX:31348569

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1352900858

2 SubmittersRCV000729289 RCV002060974

NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)

SNV
Germline

ChrX:32345966

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569559097

3 SubmittersRCV000729492 RCV000990645

NM_004006.3(DMD):c.5826A>C (p.Ala1942=)

SNV
Germline

ChrX:32342196

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1569558909

2 SubmittersRCV000730009 RCV003512074

NM_004006.3(DMD):c.6201G>A (p.Thr2067=)

SNV
Germline

ChrX:32287618

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_969925680

2 SubmittersRCV000730310 RCV001436772

NM_004006.3(DMD):c.5187A>G (p.Pro1729=)

SNV
Germline

ChrX:32362926

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1037540075

2 SubmittersRCV000730524 RCV001423338

NM_004006.3(DMD):c.3432+10A>G

SNV
Germline

ChrX:32463429

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_746260475

5 SubmittersRCV000730530 RCV001089202 RCV001796199 RCV001825462

NM_004006.3(DMD):c.831+1G>T

SNV
Germline

ChrX:32699111

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1239018406

2 SubmittersRCV000730624 RCV001038524

NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)

SNV
Germline

ChrX:32438389

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569562466

2 SubmittersRCV000730625 RCV001232666

NM_004006.3(DMD):c.1919C>T (p.Thr640Met)

SNV
Germline

ChrX:32565775

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_183677010

4 SubmittersRCV000731087 RCV000818063 RCV001830611 RCV002406666

NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)

SNV
Germline

ChrX:32491343

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1429329309

2 SubmittersRCV000731503 RCV003117532

NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter)

SNV
Germline

ChrX:32310174

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569556943

2 SubmittersRCV000732153 RCV001855676

NM_004006.3(DMD):c.772C>A (p.Pro258Thr)

SNV
Germline

ChrX:32699171

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_773066825

4 SubmittersRCV000732416 RCV002397510 RCV002485916 RCV003117533

NM_004006.3(DMD):c.4080G>A (p.Arg1360=)

SNV
Germline

ChrX:32411905

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_143900318

2 SubmittersRCV000732417 RCV001432831

NM_004006.3(DMD):c.10660C>T (p.Arg3554Trp)

SNV
Germline

ChrX:31147412

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1427119360

3 SubmittersRCV000732430 RCV001855772

NM_004006.3(DMD):c.5155-8G>T

SNV
Germline

ChrX:32362966

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1367385862

2 SubmittersRCV000732686 RCV001476901

NM_004006.3(DMD):c.10087-2A>G

SNV
Germline

ChrX:31178807

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569420861

2 SubmittersRCV000732750 RCV002470964

NM_004006.3(DMD):c.2293-8T>C

SNV
Germline

ChrX:32501850

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_377050013

5 SubmittersRCV001089054 RCV001825475 RCV000732807 RCV004997259

NM_004006.3(DMD):c.531-10T>A

SNV
Germline

ChrX:32809621

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_747522183

4 SubmittersRCV000733117 RCV000819859 RCV001270446 RCV002249446

NM_004006.3(DMD):c.8426G>A (p.Arg2809His)

SNV
Germline

ChrX:31496909

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_778331600

5 SubmittersRCV000733196 RCV001227516 RCV001592937 RCV001830633 RCV003303219

NM_004006.3(DMD):c.6511C>A (p.Gln2171Lys)

SNV
Germline

ChrX:31968442

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1203447654

2 SubmittersRCV000733540 RCV003512076

NM_004006.3(DMD):c.8028G>A (p.Arg2676=)

SNV
Germline

ChrX:31627862

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1237546420

3 SubmittersRCV000734423 RCV001036336 RCV001830638

NM_004006.3(DMD):c.9051G>A (p.Leu3017=)

SNV
Germline

ChrX:31444514

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_772255929

3 SubmittersRCV000734643 RCV002067171 RCV003165995

NM_004006.3(DMD):c.10677T>C (p.Ile3559=)

SNV
Germline

ChrX:31147395

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_765950547

5 SubmittersRCV000735137 RCV001078977 RCV001000447 RCV001276608 RCV002406674

NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)

SNV
Germline

ChrX:32463497

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_374744331

2 SubmittersRCV000735171 RCV001869004

NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)

SNV
Germline

ChrX:31206597

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569463953

2 SubmittersRCV000757165 RCV001869027

NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)

SNV
Germline

ChrX:32573811

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569230293

2 SubmittersRCV000757163 RCV002536566

NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)

SNV
Germline

ChrX:32364654

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1295394996

3 SubmittersRCV000760550 RCV000845039

NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala)

SNV
Germline

ChrX:31507359

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_376720228

4 SubmittersRCV000786297 RCV001399685 RCV002424782

NM_004006.3(DMD):c.9974+175T>A

SNV
Germline

ChrX:31182563

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602451773

1 SubmittersRCV000791277

NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter)

SNV
Germline

ChrX:31147307

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602145926

2 SubmittersRCV000810732 RCV001784436

NM_004006.3(DMD):c.10182C>A (p.Tyr3394Ter)

SNV
Germline

ChrX:31178710

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602416457

1 SubmittersRCV000819336

NM_004006.3(DMD):c.9938G>T (p.Cys3313Phe)

SNV
Germline

ChrX:31182774

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_886043597

1 SubmittersRCV000815095

NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)

SNV
Germline

ChrX:31348625

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_72466562

2 SubmittersRCV000805318 RCV001264103

NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)

SNV
Germline

ChrX:31444569

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Familial restrictive cardiomyopathy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_762577093

4 SubmittersRCV000823007 RCV000853172 RCV001825669 RCV002372356

NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)

SNV
Germline

ChrX:31478140

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_755061434

3 SubmittersRCV000807137 RCV001830761 RCV004994026

NM_004006.3(DMD):c.8881C>T (p.Gln2961Ter)

SNV
Germline

ChrX:31478162

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603222095

1 SubmittersRCV000797650

NM_004006.3(DMD):c.8828C>T (p.Thr2943Met)

SNV
Germline

ChrX:31478215

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_751810893

3 SubmittersRCV000807836 RCV000991904 RCV002370157

NM_004006.3(DMD):c.8390G>A (p.Arg2797Lys)

SNV
Germline

ChrX:31507281

Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603280511

2 SubmittersRCV000796066 RCV003229864

NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly)

SNV
Germline

ChrX:31627755

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_751599201

3 SubmittersRCV000798429 RCV001825569 RCV002422724

NM_004006.3(DMD):c.7795G>T (p.Ala2599Ser)

SNV
Germline

ChrX:31679452

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1569220550

2 SubmittersRCV000796062 RCV003227861

NM_004006.3(DMD):c.7454G>A (p.Trp2485Ter)

SNV
Germline

ChrX:31774048

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_142500746

1 SubmittersRCV000793033

NM_004006.3(DMD):c.7400T>A (p.Leu2467Ter)

SNV
Germline

ChrX:31774102

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1254776844

1 SubmittersRCV000792361

NM_004006.3(DMD):c.7363G>C (p.Ala2455Pro)

SNV
Germline

ChrX:31774139

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1603464017

2 SubmittersRCV000798397 RCV001585723

NM_004006.3(DMD):c.7066C>T (p.Gln2356Ter)

SNV
Germline

ChrX:31875220

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603513684

1 SubmittersRCV000793324

NM_004006.3(DMD):c.6614G>T (p.Arg2205Met)

SNV
Germline

ChrX:31968339

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603618489

1 SubmittersRCV000805890

NM_004006.3(DMD):c.6194G>T (p.Ser2065Ile)

SNV
Germline

ChrX:32287625

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767872954

3 SubmittersRCV000820213 RCV001825654 RCV003145205

NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)

SNV
Germline

ChrX:32310150

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_201532491

5 SubmittersRCV000805105 RCV001174998 RCV001169756 RCV001830745 RCV002352378

NM_004006.3(DMD):c.5942C>T (p.Thr1981Met)

SNV
Germline

ChrX:32310257

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_140575687

4 SubmittersRCV000808527 RCV001835972 RCV003145160 RCV004994029

NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser)

SNV
Germline

ChrX:32362858

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_373428963

4 SubmittersRCV000820517 RCV001165784 RCV001273866 RCV002336707

NM_004006.3(DMD):c.4433T>G (p.Leu1478Ter)

SNV
Germline

ChrX:32389586

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603632312

1 SubmittersRCV000793396

NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)

SNV
Germline

ChrX:32472244

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603634298

3 SubmittersRCV000797527

NM_004006.3(DMD):c.2704C>T (p.Gln902Ter)

SNV
Germline

ChrX:32485018

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603634608

1 SubmittersRCV000819083

NM_004006.3(DMD):c.2209C>T (p.Arg737Cys)

SNV
Germline

ChrX:32518091

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_762960280

3 SubmittersRCV000820788 RCV001825657 RCV002427054

NM_004006.3(DMD):c.1907T>C (p.Val636Ala)

SNV
Germline

ChrX:32565787

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_764008354

2 SubmittersRCV000796105 RCV003307443

NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)

SNV
Germline

ChrX:32573630

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1326680081

4 SubmittersRCV000799578 RCV001274379 RCV001592984 RCV002397603

NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)

SNV
Germline

ChrX:32614434

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602169535

3 SubmittersRCV000795920 RCV002249505

NM_004006.3(DMD):c.807T>A (p.His269Gln)

SNV
Germline

ChrX:32699136

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1038213947

3 SubmittersRCV000793012 RCV001825545 RCV003307424

NM_004006.3(DMD):c.616C>T (p.Gln206Ter)

SNV
Germline

ChrX:32809526

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603432076

2 SubmittersRCV000816839 RCV004800603

NM_004006.3(DMD):c.445C>T (p.Arg149Cys)

SNV
Germline

ChrX:32816553

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_774139970

3 SubmittersRCV000797831 RCV001825563 RCV004027935

NM_004006.3(DMD):c.187-1G>T

SNV
Germline

ChrX:32844861

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603447081

1 SubmittersRCV000804494

NM_004006.3(DMD):c.4846-1G>T

SNV
Germline

ChrX:32365200

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603631757

1 SubmittersRCV000821239

NM_004006.3(DMD):c.1705-2A>G

SNV
Germline

ChrX:32573639

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1601809011

2 SubmittersRCV000808723 RCV002290455

NM_004006.3(DMD):c.831+1G>C

SNV
Germline

ChrX:32699111

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1239018406

1 SubmittersRCV000809618

NM_004006.3(DMD):c.8028-3C>T

SNV
Germline

ChrX:31627865

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1603430208

2 SubmittersRCV000814043 RCV000827030

NM_004006.3(DMD):c.9563+2T>A

SNV
Germline

ChrX:31209496

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602727611

1 SubmittersRCV000813250

NM_004006.3(DMD):c.6957A>C (p.Gln2319His)

SNV
Germline

ChrX:31875329

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1603514135

3 SubmittersRCV000841611 RCV001222649 RCV002363191

NM_004006.3(DMD):c.4847C>G (p.Ala1616Gly)

SNV
Germline

ChrX:32365198

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_370167370

3 SubmittersRCV000828020 RCV001347078 RCV004994063

NM_004006.3(DMD):c.2399G>A (p.Ser800Asn)

SNV
Germline

ChrX:32491500

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_991360358

2 SubmittersRCV000841604 RCV002536137

NM_004006.3(DMD):c.1734A>T (p.Lys578Asn)

SNV
Germline

ChrX:32573608

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_754347572

3 SubmittersRCV000842442 RCV001308319 RCV002399851

NM_004006.3(DMD):c.3419A>T (p.His1140Leu)

SNV
Germline

ChrX:32463452

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 1A
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_201297190

4 SubmittersRCV001469810 RCV001256876 RCV001825704 RCV002453929

NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)

SNV
Germline

ChrX:31679394

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_972664841

4 SubmittersRCV000861346 RCV001425094 RCV001825708 RCV002409013

NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)

SNV
Germline

ChrX:32389592

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

rs_371646182

3 SubmittersRCV000862504 RCV001825715 RCV003330971

NM_004006.3(DMD):c.728T>C (p.Val243Ala)

SNV
Germline

ChrX:32699215

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_753509616

4 SubmittersRCV000863371 RCV001085960 RCV002381919

NM_004006.3(DMD):c.6953C>T (p.Ala2318Val)

SNV
Germline

ChrX:31875333

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771215006

2 SubmittersRCV000867673 RCV001811522

NM_004006.3(DMD):c.5204G>A (p.Arg1735His)

SNV
Germline

ChrX:32362909

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_757412063

4 SubmittersRCV000869211 RCV001167364 RCV001547002 RCV002336806

NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe)

SNV
Germline

ChrX:32438282

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

rs_187617705

4 SubmittersRCV000869085 RCV001169828 RCV001619851 RCV001825742

NM_004006.3(DMD):c.2985C>T (p.Gly995=)

SNV
Germline

ChrX:32468675

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_771884775

3 SubmittersRCV000868248 RCV001830899 RCV004027717

NM_004006.3(DMD):c.1998A>G (p.Ser666=)

SNV
Germline

ChrX:32545329

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1289591017

3 SubmittersRCV001429081 RCV001334202 RCV004609559

NM_004006.3(DMD):c.1688G>A (p.Arg563His)

SNV
Germline

ChrX:32573761

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Dilated cardiomyopathy 3B
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_191197223

5 SubmittersRCV000868351 RCV001201206 RCV001165933 RCV001830900 RCV002399911

NM_004006.3(DMD):c.8563T>C (p.Leu2855=)

SNV
Germline

ChrX:31479088

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_750917672

4 SubmittersRCV000874554 RCV001169689 RCV001830919 RCV002444951

NM_004006.3(DMD):c.1083A>G (p.Thr361=)

SNV
Germline

ChrX:32645030

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

rs_767325921

6 SubmittersRCV000873431 RCV001168121 RCV001310703 RCV001835995 RCV002427193 RCV004738039

NM_004006.3(DMD):c.985T>A (p.Ser329Thr)

SNV
Germline

ChrX:32645128

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

rs_756590471

3 SubmittersRCV000876165 RCV001510543 RCV001830924

NM_004006.3(DMD):c.10830G>A (p.Thr3610=)

SNV
Germline

ChrX:31146382

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_113604000

3 SubmittersRCV000951736 RCV001832199 RCV003380792

NM_004006.3(DMD):c.5728A>C (p.Arg1910=)

SNV
Germline

ChrX:32343145

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_761647447

4 SubmittersRCV000959363 RCV001169758 RCV001836038 RCV002346165

NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)

SNV
Germline

ChrX:32463492

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141887693

6 SubmittersRCV000902549 RCV001027922 RCV002454076 RCV002502672 RCV003145231

NM_004006.3(DMD):c.245G>A (p.Arg82Gln)

SNV
Germline

ChrX:32844802

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1228664222

3 SubmittersRCV000919903 RCV001168875 RCV002454097

NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)

SNV
Germline

ChrX:31169567

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_895755247

3 SubmittersRCV000990561 RCV001784487

NM_004006.3(DMD):c.10304C>G (p.Ser3435Ter)

SNV
Unknown

ChrX:31173563

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602369798

1 SubmittersRCV000990562

NM_004006.3(DMD):c.10087-1G>A

SNV
Unknown

ChrX:31178806

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602417503

1 SubmittersRCV000990565

NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter)

SNV
Germline

ChrX:31180379

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1181271457

2 SubmittersRCV000990567

NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu)

SNV
Unknown

ChrX:31182753

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602454639

1 SubmittersRCV000990569

NM_004006.3(DMD):c.9808-2A>T

SNV
Unknown

ChrX:31182906

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602456486

1 SubmittersRCV000990573

NM_004006.3(DMD):c.9649+5G>C

SNV
Germline

ChrX:31206577

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1602695527

2 SubmittersRCV000990577

NM_004006.3(DMD):c.9564-2A>G

SNV
Unknown

ChrX:31206669

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602696519

1 SubmittersRCV000990579

NM_004006.3(DMD):c.9563+1G>T

SNV
Unknown

ChrX:31209497

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_886043989

1 SubmittersRCV000990580

NM_004006.3(DMD):c.9380C>A (p.Ser3127Ter)

SNV
Unknown

ChrX:31209681

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602730254

1 SubmittersRCV000990582

NM_004006.3(DMD):c.9022C>T (p.Gln3008Ter)

SNV
Unknown

ChrX:31444543

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602937974

1 SubmittersRCV000990587

NM_004006.3(DMD):c.8937+1G>C

SNV
Unknown

ChrX:31478105

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1556656077

1 SubmittersRCV000990588

NM_004006.3(DMD):c.8744G>A (p.Trp2915Ter)

SNV
Unknown

ChrX:31478299

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603222922

1 SubmittersRCV000990594

NM_004006.3(DMD):c.8669-2A>T

SNV
Unknown

ChrX:31478376

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_794727770

1 SubmittersRCV000990597

NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter)

SNV
Germline

ChrX:31496875

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603264641

2 SubmittersRCV000990600 RCV003328642

NM_004006.3(DMD):c.8391-1G>A

SNV
Unknown

ChrX:31496945

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603264731

1 SubmittersRCV000990603

NM_004006.3(DMD):c.8299G>T (p.Glu2767Ter)

SNV
Unknown

ChrX:31507372

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603280745

1 SubmittersRCV000990605

NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter)

SNV
Unknown

ChrX:31507393

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603280796

1 SubmittersRCV000990606

NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter)

SNV
Germline

ChrX:31627744

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603430178

2 SubmittersRCV000990607

NM_004006.3(DMD):c.8027+1G>T

SNV
Unknown

ChrX:31657989

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1556789913

1 SubmittersRCV000990610

NM_004006.3(DMD):c.7872+2T>A

SNV
Unknown

ChrX:31679373

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603445277

1 SubmittersRCV000990611

NM_004006.3(DMD):c.7872+1G>A

SNV
Germline

ChrX:31679374

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603445278

3 SubmittersRCV000990612 RCV001784491

NM_004006.3(DMD):c.7717C>T (p.Gln2573Ter)

SNV
Unknown

ChrX:31679530

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603445332

1 SubmittersRCV000990614

NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)

SNV
Germline

ChrX:31679542

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603445344

3 SubmittersRCV000990615

NM_004006.3(DMD):c.7564C>T (p.Gln2522Ter)

SNV
Unknown

ChrX:31729727

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603452207

1 SubmittersRCV000990617

NM_004006.3(DMD):c.7309+1G>T

SNV
Unknown

ChrX:31819974

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398124044

1 SubmittersRCV000990620

NM_004006.3(DMD):c.7309+1G>C

SNV
Unknown

ChrX:31819974

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398124044

1 SubmittersRCV000990619

NM_004006.3(DMD):c.7098+1G>A

SNV
Germline

ChrX:31875187

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1556962223

2 SubmittersRCV000990622

NM_004006.3(DMD):c.7029G>A (p.Trp2343Ter)

SNV
Unknown

ChrX:31875257

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603513803

1 SubmittersRCV000990625

NM_004006.3(DMD):c.7028G>A (p.Trp2343Ter)

SNV
Unknown

ChrX:31875258

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603513817

1 SubmittersRCV000990626

NM_004006.3(DMD):c.6913-1G>T

SNV
Unknown

ChrX:31875374

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603514271

1 SubmittersRCV000990628

NM_004006.3(DMD):c.6913-2A>T

SNV
Unknown

ChrX:31875375

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603514272

1 SubmittersRCV000990629

NM_004006.3(DMD):c.6760A>T (p.Lys2254Ter)

SNV
Unknown

ChrX:31932082

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_201818335

1 SubmittersRCV000990630

NM_004006.3(DMD):c.6754C>T (p.Gln2252Ter)

SNV
Unknown

ChrX:31932088

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603615883

1 SubmittersRCV000990631

NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter)

SNV
Unknown

ChrX:32216947

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603628479

1 SubmittersRCV000990633

NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)

SNV
Germline

ChrX:32216997

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603628483

3 SubmittersRCV000990635 RCV001784496

NM_004006.3(DMD):c.6356G>A (p.Trp2119Ter)

SNV
Unknown

ChrX:32216998

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603628485

1 SubmittersRCV000990636

NM_004006.3(DMD):c.6023C>G (p.Ser2008Ter)

SNV
Unknown

ChrX:32310176

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603630431

1 SubmittersRCV000990639

NM_004006.3(DMD):c.5689G>T (p.Glu1897Ter)

SNV
Unknown

ChrX:32343184

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603631240

1 SubmittersRCV000990643

NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)

SNV
Unknown

ChrX:32343237

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603631244

2 SubmittersRCV000990644 RCV001263658

NM_004006.3(DMD):c.5255T>G (p.Leu1752Ter)

SNV
Unknown

ChrX:32362858

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_373428963

1 SubmittersRCV000990650

NM_004006.3(DMD):c.5167G>T (p.Glu1723Ter)

SNV
Unknown

ChrX:32362946

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603631705

1 SubmittersRCV000990651

NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter)

SNV
Germline

ChrX:32364680

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603631744

2 SubmittersRCV000990652

NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)

SNV
Germline

ChrX:32365065

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603631752

4 SubmittersRCV000990653 RCV001263946

NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)

SNV
Germline

ChrX:32380662

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603632117

3 SubmittersRCV000990655 RCV000991901

NM_004006.3(DMD):c.4684A>T (p.Arg1562Ter)

SNV
Unknown

ChrX:32380671

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_771425504

1 SubmittersRCV000990657

NM_004006.3(DMD):c.4660G>T (p.Glu1554Ter)

SNV
Unknown

ChrX:32386324

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1216000876

1 SubmittersRCV000990658

NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter)

SNV
Germline

ChrX:32389581

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603632311

2 SubmittersRCV000990662 RCV003145246

NM_004006.3(DMD):c.4423A>T (p.Lys1475Ter)

SNV
Unknown

ChrX:32389596

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603632314

1 SubmittersRCV000990663

NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter)

SNV
Germline

ChrX:32389667

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603632316

2 SubmittersRCV000990664

NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)

SNV
Germline

ChrX:32390088

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603632322

2 SubmittersRCV000990666 RCV004596384

NM_004006.3(DMD):c.4294C>T (p.Gln1432Ter)

SNV
Unknown

ChrX:32390121

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603632326

1 SubmittersRCV000990670

NM_004006.3(DMD):c.3843G>A (p.Trp1281Ter)

SNV
Unknown

ChrX:32441258

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603633541

1 SubmittersRCV000990675

NM_004006.3(DMD):c.3795G>A (p.Trp1265Ter)

SNV
Unknown

ChrX:32441306

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603633545

1 SubmittersRCV000990676

NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter)

SNV
Germline

ChrX:32448545

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1339088514

2 SubmittersRCV000990677

NM_004006.3(DMD):c.3603+1G>A

SNV
Germline

ChrX:32454661

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1209389771

2 SubmittersRCV000990683

NM_004006.3(DMD):c.3603G>A (p.Lys1201=)

SNV
Germline

ChrX:32454662

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Elevated circulating creatine kinase concentration

Criteria Provided
Conflicting Classifications

rs_1265370991

3 SubmittersRCV000990684 RCV001788389

NM_004006.3(DMD):c.3460G>T (p.Gly1154Ter)

SNV
Unknown

ChrX:32454805

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603633868

1 SubmittersRCV000990686

NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter)

SNV
Germline

ChrX:32468647

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603634206

2 SubmittersRCV000990694

NM_004006.3(DMD):c.2803+5G>C

SNV
Unknown

ChrX:32484914

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603634603

1 SubmittersRCV000990699

NM_004006.3(DMD):c.2642C>A (p.Ser881Ter)

SNV
Unknown

ChrX:32485080

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_747937552

1 SubmittersRCV000990703

NM_004006.3(DMD):c.2622+1G>T

SNV
Unknown

ChrX:32491276

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123901

1 SubmittersRCV000990704

NM_004006.3(DMD):c.2461G>T (p.Glu821Ter)

SNV
Unknown

ChrX:32491438

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603634745

1 SubmittersRCV000990709

NM_004006.3(DMD):c.2448C>A (p.Cys816Ter)

SNV
Unknown

ChrX:32491451

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603634746

1 SubmittersRCV000990710

NM_004006.3(DMD):c.2380+1G>A

SNV
Germline

ChrX:32501754

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123884

2 SubmittersRCV000990714

NM_004006.3(DMD):c.2169-1G>A

SNV
Unknown

ChrX:32518132

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603635331

1 SubmittersRCV000990717

NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)

SNV
Germline

ChrX:32565728

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603636537

4 SubmittersRCV000990721 RCV001784513 RCV004798878

NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)

SNV
Germline

ChrX:32565800

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603636541

2 SubmittersRCV000990722

NM_004006.3(DMD):c.1777C>T (p.Gln593Ter)

SNV
Unknown

ChrX:32573565

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1601808326

1 SubmittersRCV000990725

NM_004006.3(DMD):c.1750A>T (p.Lys584Ter)

SNV
Unknown

ChrX:32573592

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1601808608

1 SubmittersRCV000990726

NM_004006.3(DMD):c.1150-2A>T

SNV
Unknown

ChrX:32644315

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_794727030

1 SubmittersRCV000990732

NM_004006.3(DMD):c.1147G>T (p.Glu383Ter)

SNV
Unknown

ChrX:32644966

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602467530

1 SubmittersRCV000990733

NM_004006.3(DMD):c.998C>A (p.Ser333Ter)

SNV
Unknown

ChrX:32645115

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602468968

1 SubmittersRCV000990737

NM_004006.3(DMD):c.961-1G>A

SNV
Germline

ChrX:32645153

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602469384

2 SubmittersRCV000990739

NM_004006.3(DMD):c.822T>A (p.Tyr274Ter)

SNV
Unknown

ChrX:32699121

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603149954

1 SubmittersRCV000990741

NM_004006.3(DMD):c.693C>G (p.Tyr231Ter)

SNV
Unknown

ChrX:32699250

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_374222301

1 SubmittersRCV000990746

NM_004006.3(DMD):c.666T>G (p.Tyr222Ter)

SNV
Unknown

ChrX:32699277

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603151699

1 SubmittersRCV000990747

NM_004006.3(DMD):c.572C>A (p.Ser191Ter)

SNV
Unknown

ChrX:32809570

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_794727863

1 SubmittersRCV000990750

NM_004006.3(DMD):c.453T>G (p.Tyr151Ter)

SNV
Unknown

ChrX:32816545

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603437254

1 SubmittersRCV000990752

NM_004006.3(DMD):c.265-463A>G

SNV
Unknown

ChrX:32823850

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603441629

1 SubmittersRCV000990755

NM_004006.3(DMD):c.264+5G>A

SNV
Germline

ChrX:32844778

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_398123902

2 SubmittersRCV000990756

NM_004006.3(DMD):c.196A>T (p.Lys66Ter)

SNV
Unknown

ChrX:32844851

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603447072

1 SubmittersRCV000990758

NM_004006.3(DMD):c.93+1G>T

SNV
Germline

ChrX:33020138

Pathogenic

Duchenne muscular dystrophy
Color vision defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_886042604

3 SubmittersRCV000990762 RCV002463458

NM_004006.3(DMD):c.31+5G>A

SNV
Unknown

ChrX:33211277

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1403865104

1 SubmittersRCV000990766

NM_004006.3(DMD):c.2530C>T (p.Gln844Ter)

SNV
Germline

ChrX:32491369

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_768892830

2 SubmittersRCV000991291

NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn)

SNV
Germline

ChrX:31658002

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_771081514

3 SubmittersRCV000991903 RCV001245098 RCV002416273

NM_004006.3(DMD):c.3276+1G>C

SNV
Germline

ChrX:32464585

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123934

3 SubmittersRCV000991898 RCV002549770

NM_004006.3(DMD):c.93+2T>A

SNV
Germline

ChrX:33020137

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602765856

2 SubmittersRCV000991906 RCV001235869

NM_004006.3(DMD):c.4383C>T (p.Phe1461=)

SNV
Germline

ChrX:32389636

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_752977828

3 SubmittersRCV000999377 RCV001427740 RCV001827150

NM_004006.3(DMD):c.2991C>T (p.Tyr997=)

SNV
Germline

ChrX:32468669

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_863224992

2 SubmittersRCV000999380 RCV003512095

NM_004006.3(DMD):c.395A>G (p.Gln132Arg)

SNV
Germline

ChrX:32816603

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_751455994

3 SubmittersRCV000999601 RCV001858901 RCV004994186

NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)

SNV
Germline

ChrX:31223056

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

rs_200928985

5 SubmittersRCV001001050 RCV001248680 RCV001832317 RCV002372726 RCV004738114

NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)

SNV
Germline

ChrX:31479042

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

rs_373481995

5 SubmittersRCV001002379 RCV001038456 RCV001832322 RCV002445161 RCV002481802

NM_004006.3(DMD):c.10395-1G>A

SNV
Unknown

ChrX:31169602

Likely pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

rs_1602338283

1 SubmittersRCV001004416

NM_004006.3(DMD):c.5922+1G>T

SNV
Germline

ChrX:32342099

Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603631219

3 SubmittersRCV001004418 RCV001811620

NM_004006.3(DMD):c.2381-2A>C

SNV
Unknown

ChrX:32491520

Likely pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

rs_1603634749

1 SubmittersRCV001004420

NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp)

SNV
Germline

ChrX:31478339

Conflicting classifications of pathogenicity

Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1188233243

3 SubmittersRCV001027929 RCV001035307 RCV001271295 RCV002481840

NM_004006.3(DMD):c.10712G>A (p.Arg3571His)

SNV
Germline

ChrX:31147360

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_935091512

6 SubmittersRCV001041741 RCV001832404 RCV002497372 RCV003160277 RCV003145270

NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)

SNV
Germline

ChrX:31177946

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Dystrophin deficiency
Qualitative or quantitative defects of dystrophin
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_376745644

4 SubmittersRCV001059666 RCV001271293 RCV002282444 RCV003462582

NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu)

SNV
Germline

ChrX:31178680

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_367657320

3 SubmittersRCV001061054 RCV001832546 RCV002402434

NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe)

SNV
Germline

ChrX:31180446

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

rs_2041037870

3 SubmittersRCV001055649 RCV001811633 RCV001832504

NM_004006.3(DMD):c.9852G>A (p.Trp3284Ter)

SNV
Germline

ChrX:31182860

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2041309291

1 SubmittersRCV001064404

NM_004006.3(DMD):c.8821G>T (p.Glu2941Ter)

SNV
Germline

ChrX:31478222

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2067953453

1 SubmittersRCV001039885

NM_004006.3(DMD):c.8626C>T (p.Gln2876Ter)

SNV
Germline

ChrX:31479025

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2068036881

1 SubmittersRCV001056428

NM_004006.3(DMD):c.8214G>A (p.Trp2738Ter)

SNV
Germline

ChrX:31627676

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2078916448

2 SubmittersRCV001056872 RCV004590068

NM_004006.3(DMD):c.7378G>T (p.Glu2460Ter)

SNV
Germline

ChrX:31774124

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2090513299

1 SubmittersRCV001039981

NM_004006.3(DMD):c.7093G>A (p.Val2365Ile)

SNV
Germline

ChrX:31875193

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_746851176

3 SubmittersRCV001050093 RCV001827316 RCV004031557

NM_004006.3(DMD):c.6901C>T (p.Gln2301Ter)

SNV
Germline

ChrX:31929607

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2094827204

1 SubmittersRCV001062106

NM_004006.3(DMD):c.6622G>T (p.Glu2208Ter)

SNV
Germline

ChrX:31932220

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2094864356

1 SubmittersRCV001071708

NM_004006.3(DMD):c.6423C>G (p.Tyr2141Ter)

SNV
Germline

ChrX:32216931

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1425702864

1 SubmittersRCV001072078

NM_004006.3(DMD):c.5405A>G (p.Gln1802Arg)

SNV
Germline

ChrX:32348449

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_893536407

3 SubmittersRCV001070066 RCV001836113 RCV002348480

NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu)

SNV
Germline

ChrX:32386371

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1040362862

4 SubmittersRCV001049344 RCV001273870 RCV002339249 RCV003145293

NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)

SNV
Germline

ChrX:32386380

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1431604157

4 SubmittersRCV001048445 RCV001200317 RCV003117723 RCV001827305

NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)

SNV
Germline

ChrX:32389643

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_755835144

5 SubmittersRCV001044849 RCV001832425 RCV002327287 RCV003145277 RCV003233935

NM_004006.3(DMD):c.4127A>C (p.Glu1376Ala)

SNV
Germline

ChrX:32411858

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2098143155

2 SubmittersRCV001041273 RCV003145269

NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu)

SNV
Germline

ChrX:32438358

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_2098269308

4 SubmittersRCV001063630 RCV001827408 RCV002497454 RCV004030498

NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)

SNV
Germline

ChrX:32454717

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374993642

5 SubmittersRCV001068128 RCV002339338 RCV001827446 RCV001811639

NM_004006.3(DMD):c.2717T>G (p.Phe906Cys)

SNV
Germline

ChrX:32485005

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_375557173

3 SubmittersRCV001040916 RCV001836073 RCV002436548

NM_004006.3(DMD):c.2599A>G (p.Lys867Glu)

SNV
Germline

ChrX:32491300

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1382610511

3 SubmittersRCV001057816 RCV001836097 RCV003160465

NM_004006.3(DMD):c.2227C>T (p.Gln743Ter)

SNV
Germline

ChrX:32518073

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2046036327

3 SubmittersRCV001052197 RCV001784603

NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr)

SNV
Germline

ChrX:32565740

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1488881909

3 SubmittersRCV001827330 RCV002416394 RCV001052814

NM_004006.3(DMD):c.1463G>A (p.Arg488His)

SNV
Germline

ChrX:32614322

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_794727065

3 SubmittersRCV001037954 RCV001832385 RCV002489548

NM_004006.3(DMD):c.1162G>T (p.Asp388Tyr)

SNV
Germline

ChrX:32644301

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1454929812

3 SubmittersRCV001053887 RCV001274381 RCV002320296

NM_004006.3(DMD):c.940C>G (p.Arg314Gly)

SNV
Germline

ChrX:32697890

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_764526102

3 SubmittersRCV001051755 RCV002374908 RCV001832475

NM_004006.3(DMD):c.7310-5T>G

SNV
Germline

ChrX:31774197

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_2090517382

3 SubmittersRCV001048669 RCV004031523 RCV001832455

NM_004006.3(DMD):c.2804-1G>C

SNV
Germline

ChrX:32472310

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123909

2 SubmittersRCV001042956 RCV001784585

NM_004006.3(DMD):c.6290+2T>A

SNV
Germline

ChrX:32287527

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097447247

1 SubmittersRCV001048615

NM_004006.3(DMD):c.3277-2A>T

SNV
Germline

ChrX:32463596

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2098391032

1 SubmittersRCV001050686

NM_004006.3(DMD):c.832-2A>C

SNV
Germline

ChrX:32698000

Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2063781031

2 SubmittersRCV001055672 RCV003490040

NM_004006.3(DMD):c.187-2A>G

SNV
Germline

ChrX:32844862

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2080514041

1 SubmittersRCV001056933

NM_004006.3(DMD):c.10797+2T>A

SNV
Germline

ChrX:31147273

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2036834025

1 SubmittersRCV001038643

NM_004006.3(DMD):c.650-1G>A

SNV
Germline

ChrX:32699294

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2063903818

1 SubmittersRCV001047975

NM_004006.3(DMD):c.6615-2A>G

SNV
Germline

ChrX:31932229

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1557011973

1 SubmittersRCV001090164

NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)

SNV
Germline

ChrX:31478158

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
not specified
Duchenne muscular dystrophy
Cardiovascular phenotype
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_151087470

5 SubmittersRCV001167230 RCV003230638 RCV001247077 RCV003339522 RCV001833724

NM_004006.3(DMD):c.8181C>T (p.Asp2727=)

SNV
Germline

ChrX:31627709

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_767417979

2 SubmittersRCV001169690 RCV002557467

NM_004006.3(DMD):c.7236G>A (p.Ala2412=)

SNV
Germline

ChrX:31820048

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_149003002

3 SubmittersRCV001165710 RCV001828581 RCV001474079

NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)

SNV
Germline

ChrX:31932219

Conflicting classifications of pathogenicity

Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139937177

5 SubmittersRCV001833726 RCV001224835 RCV002365820 RCV001167893 RCV003438705

NM_004006.3(DMD):c.4942T>G (p.Leu1648Val)

SNV
Germline

ChrX:32365103

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_138472027

3 SubmittersRCV001167367 RCV003293914 RCV002559601

NM_004006.3(DMD):c.1896G>A (p.Lys632=)

SNV
Germline

ChrX:32565798

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_766723466

2 SubmittersRCV001165929 RCV001479445

NM_004006.3(DMD):c.1704+9T>C

SNV
Germline

ChrX:32573736

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_765811715

2 SubmittersRCV001165932 RCV001407017

NM_004006.3(DMD):c.1602+13T>A

SNV
Germline

ChrX:32595744

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_772364333

2 SubmittersRCV001167506 RCV002067821

NM_004006.3(DMD):c.4402G>T (p.Glu1468Ter)

SNV
Germline

ChrX:32389617

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097986793

1 SubmittersRCV001174500

NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)

SNV
Germline

ChrX:31178679

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

rs_770516401

3 SubmittersRCV001197492 RCV003621588 RCV002484071

NM_004006.3(DMD):c.9868C>T (p.Gln3290Ter)

SNV
Germline

ChrX:31182844

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2041306808

1 SubmittersRCV001221009

NM_004006.3(DMD):c.5452G>T (p.Glu1818Ter)

SNV
Germline

ChrX:32346077

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097762928

1 SubmittersRCV001224165

NM_004006.3(DMD):c.4745T>C (p.Val1582Ala)

SNV
Germline

ChrX:32380610

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_147231219

3 SubmittersRCV001225000 RCV001833944 RCV004609679

NM_004006.3(DMD):c.3152G>A (p.Arg1051Gln)

SNV
Germline

ChrX:32468508

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_761715369

3 SubmittersRCV001224121 RCV001828785 RCV002322086

NM_004006.3(DMD):c.2312C>T (p.Ala771Val)

SNV
Germline

ChrX:32501823

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1245604423

5 SubmittersRCV001218999 RCV002227510 RCV001828743 RCV003380895 RCV002484188

NM_004006.3(DMD):c.488G>A (p.Trp163Ter)

SNV
Germline

ChrX:32816510

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2077774135

1 SubmittersRCV001222995

NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)

SNV
Germline

ChrX:31209557

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_185247491

4 SubmittersRCV001206434 RCV001828655 RCV002484115 RCV002375142

NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg)

SNV
Germline

ChrX:31507350

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_750419527

3 SubmittersRCV001206730 RCV001833814 RCV002484117

NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)

SNV
Germline

ChrX:31679448

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747127624

4 SubmittersRCV001213365 RCV001833868 RCV002491654 RCV003145394

NM_004006.3(DMD):c.7736T>A (p.Leu2579Ter)

SNV
Germline

ChrX:31679511

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2082260036

1 SubmittersRCV001204335

NM_004006.3(DMD):c.7720C>T (p.Gln2574Ter)

SNV
Germline

ChrX:31679527

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2082260996

1 SubmittersRCV001211569

NM_004006.3(DMD):c.6076A>G (p.Lys2026Glu)

SNV
Germline

ChrX:32310123

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_772603087

2 SubmittersRCV001208857 RCV002356895

NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)

SNV
Germline

ChrX:32343220

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1295935628

3 SubmittersRCV001204983 RCV002249793

NM_004006.3(DMD):c.4728G>C (p.Met1576Ile)

SNV
Germline

ChrX:32380627

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_757160024

4 SubmittersRCV001204219 RCV001833796 RCV002484103 RCV004994321

NM_004006.3(DMD):c.4600C>T (p.Gln1534Ter)

SNV
Germline

ChrX:32386384

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097958423

1 SubmittersRCV001206194

NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)

SNV
Germline

ChrX:32438255

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_907237595

2 SubmittersRCV001202967 RCV001785794

NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)

SNV
Germline

ChrX:32472187

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_767387334

3 SubmittersRCV001207235 RCV002249797

NM_004006.3(DMD):c.2780C>T (p.Ala927Val)

SNV
Germline

ChrX:32484942

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_41312094

4 SubmittersRCV001202745 RCV001812246 RCV001828627 RCV004609653

NM_004006.3(DMD):c.2440G>T (p.Glu814Ter)

SNV
Germline

ChrX:32491459

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1408435603

1 SubmittersRCV001213483

NM_004006.3(DMD):c.1837A>T (p.Lys613Ter)

SNV
Germline

ChrX:32565857

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1302764635

2 SubmittersRCV001202089 RCV001264117

NM_004006.3(DMD):c.976G>T (p.Glu326Ter)

SNV
Germline

ChrX:32645137

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2059702093

1 SubmittersRCV001204911

NM_004006.3(DMD):c.11015-5T>A

SNV
Germline

ChrX:31126678

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_753104670

4 SubmittersRCV001225092 RCV001828793 RCV002429953 RCV002484220

NM_004006.3(DMD):c.9807+2T>G

SNV
Germline

ChrX:31203959

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2043792360

1 SubmittersRCV001223604

NM_004006.3(DMD):c.9563+5G>C

SNV
Germline

ChrX:31209493

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_764119686

1 SubmittersRCV001219064

NM_004006.3(DMD):c.3162+1G>A

SNV
Germline

ChrX:32468497

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1335666832

2 SubmittersRCV001215695 RCV002249807

NM_004006.3(DMD):c.10813A>T (p.Lys3605Ter)

SNV
Germline

ChrX:31146399

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2036700718

1 SubmittersRCV001232589

NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys)

SNV
Germline

ChrX:31209583

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_779233737

4 SubmittersRCV001232982 RCV001534502 RCV002375240

NM_004006.3(DMD):c.8543A>G (p.His2848Arg)

SNV
Germline

ChrX:31496792

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_146890210

3 SubmittersRCV001228187 RCV001828821 RCV002447143

NM_004006.3(DMD):c.4903G>T (p.Gly1635Ter)

SNV
Germline

ChrX:32365142

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097850128

1 SubmittersRCV001231853

NM_004006.3(DMD):c.4897G>T (p.Glu1633Ter)

SNV
Germline

ChrX:32365148

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_370800101

1 SubmittersRCV001227515

NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)

SNV
Germline

ChrX:31658072

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1015097529

4 SubmittersRCV001239674 RCV001828929 RCV002418820 RCV003145460

NM_004006.3(DMD):c.7852A>T (p.Lys2618Ter)

SNV
Germline

ChrX:31679395

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2082253437

1 SubmittersRCV001247096

NM_004006.3(DMD):c.7795G>A (p.Ala2599Thr)

SNV
Germline

ChrX:31679452

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1569220550

3 SubmittersRCV001240351 RCV001828948 RCV004034647

NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)

SNV
Germline

ChrX:31679536

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_757011771

4 SubmittersRCV001239737 RCV001828933 RCV002402758 RCV002480788

NM_004006.3(DMD):c.6122T>C (p.Ile2041Thr)

SNV
Germline

ChrX:32287697

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_749441036

2 SubmittersRCV001247076 RCV004034886

NM_004006.3(DMD):c.5660A>G (p.Asp1887Gly)

SNV
Germline

ChrX:32343213

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1239878805

3 SubmittersRCV001239695 RCV001836202 RCV004994362

NM_004006.3(DMD):c.3193G>C (p.Ala1065Pro)

SNV
Germline

ChrX:32464669

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_774756042

3 SubmittersRCV001241818 RCV001828986 RCV002322148

NM_004006.3(DMD):c.2102A>C (p.Glu701Ala)

SNV
Germline

ChrX:32545225

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_772229363

3 SubmittersRCV001246815 RCV001664779 RCV001835282

NM_004006.3(DMD):c.1855A>T (p.Lys619Ter)

SNV
Germline

ChrX:32565839

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2051636517

1 SubmittersRCV001239889

NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)

SNV
Germline

ChrX:32573588

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376238937

4 SubmittersRCV001243370 RCV001835166 RCV002402773 RCV003145473

NM_004006.3(DMD):c.1357C>T (p.Gln453Ter)

SNV
Germline

ChrX:32614428

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2057404615

1 SubmittersRCV001244643

NM_004006.3(DMD):c.1238C>A (p.Ser413Ter)

SNV
Germline

ChrX:32644225

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2059646164

1 SubmittersRCV001240780

NM_004006.3(DMD):c.479C>A (p.Thr160Asn)

SNV
Germline

ChrX:32816519

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_748752465

4 SubmittersRCV001242139 RCV001828991 RCV003145468 RCV004034706

NM_004006.3(DMD):c.7661-1G>A

SNV
Germline

ChrX:31679587

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1556806346

1 SubmittersRCV001225998

NM_004006.3(DMD):c.2949+2T>C

SNV
Germline

ChrX:32472162

Pathogenic/Likely pathogenic

Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2040709857

5 SubmittersRCV001828804 RCV002222680 RCV001226167 RCV002276666 RCV003462772

NM_004006.3(DMD):c.3603+2T>C

SNV
Germline

ChrX:32454660

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_146071084

1 SubmittersRCV001238952

NM_004006.3(DMD):c.1087C>T (p.Gln363Ter)

SNV
Germline

ChrX:32645026

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2059695805

1 SubmittersRCV001250160

NM_004006.3(DMD):c.811C>T (p.Gln271Ter)

SNV
Germline

ChrX:32699132

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2063890662

4 SubmittersRCV001251518

NM_004006.3(DMD):c.8548-2A>G

SNV
Germline

ChrX:31479105

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Single Submitter

rs_2068042914

2 SubmittersRCV001292552 RCV001780206

NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)

SNV
Germline

ChrX:31929661

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_751145927

5 SubmittersRCV001256877 RCV001586095 RCV001830058 RCV002366096 RCV002570611

NM_004006.3(DMD):c.10228G>A (p.Val3410Ile)

SNV
Germline

ChrX:31177966

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_751030250

3 SubmittersRCV001293086 RCV002069367 RCV002430061

NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter)

SNV
Germline

ChrX:32438330

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_745640786

2 SubmittersRCV001261532 RCV004796395

NM_004006.3(DMD):c.4519-2A>C

SNV
Unknown

ChrX:32386467

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097958830

1 SubmittersRCV001261920

NM_004006.3(DMD):c.10807G>T (p.Glu3603Ter)

SNV
Unknown

ChrX:31146405

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_754333675

1 SubmittersRCV001264099

NM_004006.3(DMD):c.10699C>T (p.Gln3567Ter)

SNV
Unknown

ChrX:31147373

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2036842297

1 SubmittersRCV001264100

NM_004006.3(DMD):c.9743T>A (p.Leu3248Ter)

SNV
Unknown

ChrX:31204025

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2043796525

1 SubmittersRCV001264101

NM_004006.3(DMD):c.9362T>A (p.Leu3121Ter)

SNV
Unknown

ChrX:31209699

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2044453958

1 SubmittersRCV001264102

NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)

SNV
Germline

ChrX:31444551

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Abnormality of the musculature
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2065150560

3 SubmittersRCV001264104 RCV001814298 RCV003621592

NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter)

SNV
Unknown

ChrX:31478992

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2068034053

1 SubmittersRCV001264223

NM_004006.3(DMD):c.8483T>A (p.Leu2828Ter)

SNV
Unknown

ChrX:31496852

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2069915167

1 SubmittersRCV001264224

NM_004006.3(DMD):c.8329A>T (p.Arg2777Ter)

SNV
Unknown

ChrX:31507342

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2071051447

1 SubmittersRCV001264225

NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter)

SNV
Unknown

ChrX:31657994

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2080887929

1 SubmittersRCV001264226

NM_004006.3(DMD):c.7833T>A (p.Tyr2611Ter)

SNV
Unknown

ChrX:31679414

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2082254429

1 SubmittersRCV001264227

NM_004006.3(DMD):c.6428G>A (p.Trp2143Ter)

SNV
Unknown

ChrX:32216926

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097114467

1 SubmittersRCV001264228

NM_004006.3(DMD):c.6217A>T (p.Lys2073Ter)

SNV
Unknown

ChrX:32287602

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_773372553

1 SubmittersRCV001264229

NM_004006.3(DMD):c.6175A>T (p.Lys2059Ter)

SNV
Unknown

ChrX:32287644

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097447879

1 SubmittersRCV001264230

NM_004006.3(DMD):c.6124A>T (p.Lys2042Ter)

SNV
Unknown

ChrX:32287695

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1178785582

1 SubmittersRCV001263655

NM_004006.3(DMD):c.5860A>T (p.Lys1954Ter)

SNV
Unknown

ChrX:32342162

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097746958

1 SubmittersRCV001263656

NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter)

SNV
Germline

ChrX:32342228

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2097747388

2 SubmittersRCV001263657

NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter)

SNV
Germline

ChrX:32348471

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_79541196

2 SubmittersRCV001263659 RCV001880065

NM_004006.3(DMD):c.5114C>G (p.Ser1705Ter)

SNV
Unknown

ChrX:32364622

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097848034

1 SubmittersRCV001263660

NM_004006.3(DMD):c.5026G>T (p.Glu1676Ter)

SNV
Unknown

ChrX:32364710

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_868267519

1 SubmittersRCV001263661

NM_004006.3(DMD):c.5012T>A (p.Leu1671Ter)

SNV
Unknown

ChrX:32365033

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097849676

1 SubmittersRCV001263662

NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)

SNV
Germline

ChrX:32365066

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2097849830

2 SubmittersRCV001263947 RCV002537663

NM_004006.3(DMD):c.4656T>A (p.Tyr1552Ter)

SNV
Unknown

ChrX:32386328

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097958107

1 SubmittersRCV001263948

NM_004006.3(DMD):c.4649T>A (p.Leu1550Ter)

SNV
Unknown

ChrX:32386335

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097958158

1 SubmittersRCV001263949

NM_004006.3(DMD):c.4454T>A (p.Leu1485Ter)

SNV
Unknown

ChrX:32389565

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097986340

1 SubmittersRCV001263950

NM_004006.3(DMD):c.4342C>T (p.Gln1448Ter)

SNV
Unknown

ChrX:32390073

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097990454

1 SubmittersRCV001263951

NM_004006.3(DMD):c.3898G>T (p.Glu1300Ter)

SNV
Unknown

ChrX:32441203

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2098280321

1 SubmittersRCV001263952

NM_004006.3(DMD):c.3892G>T (p.Gly1298Ter)

SNV
Unknown

ChrX:32441209

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_750349613

1 SubmittersRCV001263953

NM_004006.3(DMD):c.3824T>A (p.Leu1275Ter)

SNV
Unknown

ChrX:32441277

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_770934386

1 SubmittersRCV001264113

NM_004006.3(DMD):c.3457A>T (p.Lys1153Ter)

SNV
Germline

ChrX:32454808

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2098349366

2 SubmittersRCV001264114 RCV004596434

NM_004006.3(DMD):c.3059C>A (p.Ser1020Ter)

SNV
Unknown

ChrX:32468601

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123919

1 SubmittersRCV001264115

NM_004006.3(DMD):c.2626G>T (p.Glu876Ter)

SNV
Unknown

ChrX:32485096

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1040401556

1 SubmittersRCV001264116

NM_004006.3(DMD):c.1819A>T (p.Lys607Ter)

SNV
Unknown

ChrX:32565875

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_767698069

1 SubmittersRCV001264118

NM_004006.3(DMD):c.1501G>T (p.Glu501Ter)

SNV
Germline

ChrX:32595858

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2055461260

2 SubmittersRCV001264119 RCV002537666

NM_004006.3(DMD):c.1405G>T (p.Glu469Ter)

SNV
Unknown

ChrX:32614380

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_774163062

1 SubmittersRCV001264120

NM_004006.3(DMD):c.4840G>T (p.Gly1614Ter)

SNV
Germline

ChrX:32380515

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097920506

1 SubmittersRCV001264393

NM_004006.3(DMD):c.2945T>A (p.Leu982Ter)

SNV
Germline

ChrX:32472168

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2040710629

1 SubmittersRCV001264394

NM_004006.3(DMD):c.3490A>T (p.Lys1164Ter)

SNV
Germline

ChrX:32454775

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2098349160

1 SubmittersRCV001264406

NM_004006.3(DMD):c.2348C>G (p.Ser783Ter)

SNV
Germline

ChrX:32501787

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2044079791

1 SubmittersRCV001264407

NM_004006.3(DMD):c.5812G>T (p.Glu1938Ter)

SNV
Germline

ChrX:32342210

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097747311

1 SubmittersRCV001264783

NM_004006.3(DMD):c.7768G>T (p.Glu2590Ter)

SNV
Germline

ChrX:31679479

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2082258116

1 SubmittersRCV001264785

NM_004006.3(DMD):c.4675-1G>A

SNV
Germline

ChrX:32380681

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2097921115

2 SubmittersRCV001264786

NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter)

SNV
Germline

ChrX:32390144

Pathogenic

Muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2097991272

2 SubmittersRCV001271111 RCV001385392

NM_004006.3(DMD):c.1761A>G (p.Thr587=)

SNV
Germline

ChrX:32573581

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_370103963

3 SubmittersRCV001288596 RCV001455022 RCV002411930

NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter)

SNV
Germline

ChrX:31929685

Likely pathogenic

Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Qualitative or quantitative defects of dystrophin

Criteria Provided
Single Submitter

rs_2094828872

2 SubmittersRCV001835379 RCV001290526

NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)

SNV
Germline

ChrX:32346053

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dystrophin
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_140913030

3 SubmittersRCV001290604 RCV001587320 RCV001863159

NM_004006.3(DMD):c.7981A>G (p.Met2661Val)

SNV
Germline

ChrX:31658036

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_764521635

2 SubmittersRCV001308857 RCV002418940

NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)

SNV
Germline

ChrX:32484946

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1055371114

3 SubmittersRCV001306946 RCV001830234 RCV002437047

NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)

SNV
Germline

ChrX:32390121

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1603632326

5 SubmittersRCV001325184 RCV001836313 RCV003490192 RCV004995683

NM_004006.3(DMD):c.3677C>G (p.Ala1226Gly)

SNV
Germline

ChrX:32448565

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_752521629

3 SubmittersRCV001317433 RCV001830305 RCV004034426

NM_004006.3(DMD):c.3175A>G (p.Thr1059Ala)

SNV
Germline

ChrX:32464687

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_763548540

3 SubmittersRCV001324897 RCV001830996 RCV002322250

NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)

SNV
Germline

ChrX:32614397

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

rs_863224981

4 SubmittersRCV001317193 RCV001664821 RCV001836295 RCV002486251

NM_004006.3(DMD):c.969A>T (p.Glu323Asp)

SNV
Germline

ChrX:32645144

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774626343

3 SubmittersRCV001337184 RCV001836321 RCV003145580

NM_004006.3(DMD):c.5789G>A (p.Arg1930His)

SNV
Germline

ChrX:32342233

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759051688

2 SubmittersRCV001373681 RCV003145643

NM_004006.3(DMD):c.1812+5G>A

SNV
Unknown

ChrX:32573525

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149136134

1 SubmittersRCV001726537

NM_004006.3(DMD):c.10262+1G>T

SNV
Germline

ChrX:31177931

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_145603325

3 SubmittersRCV001378126 RCV001826135 RCV002246356

NM_004006.3(DMD):c.9225-2A>T

SNV
Germline

ChrX:31261018

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147649643

2 SubmittersRCV001378903 RCV003145648

NM_004006.3(DMD):c.9224+5G>C

SNV
Germline

ChrX:31323593

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1556503812

1 SubmittersRCV001379552

NM_004006.3(DMD):c.961-2A>G

SNV
Germline

ChrX:32645154

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2146836134

1 SubmittersRCV001377561

NM_004006.3(DMD):c.831G>C (p.Gln277His)

SNV
Germline

ChrX:32699112

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398124067

1 SubmittersRCV001379043

NM_004006.3(DMD):c.10425C>G (p.Tyr3475Ter)

SNV
Germline

ChrX:31169571

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148184732

1 SubmittersRCV001388907

NM_004006.3(DMD):c.9415A>T (p.Lys3139Ter)

SNV
Germline

ChrX:31209646

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1060502628

1 SubmittersRCV001385752

NM_004006.3(DMD):c.8745G>A (p.Trp2915Ter)

SNV
Germline

ChrX:31478298

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_761750882

1 SubmittersRCV001384483

NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter)

SNV
Germline

ChrX:31496844

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_753225356

3 SubmittersRCV001384485 RCV001780337

NM_004006.3(DMD):c.8421G>A (p.Trp2807Ter)

SNV
Germline

ChrX:31496914

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147076330

1 SubmittersRCV001389552

NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)

SNV
Germline

ChrX:31496919

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147076500

4 SubmittersRCV001384486 RCV001780338 RCV001831388 RCV002447512

NM_004006.3(DMD):c.7822G>T (p.Glu2608Ter)

SNV
Germline

ChrX:31679425

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148732716

1 SubmittersRCV001384488

NM_004006.3(DMD):c.6913-2A>C

SNV
Germline

ChrX:31875375

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603514272

1 SubmittersRCV001385586

NM_004006.3(DMD):c.6677G>A (p.Trp2226Ter)

SNV
Germline

ChrX:31932165

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2150001671

1 SubmittersRCV001384664

NM_004006.3(DMD):c.6254G>A (p.Trp2085Ter)

SNV
Germline

ChrX:32287565

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148456690

1 SubmittersRCV001385571

NM_004006.3(DMD):c.6146C>G (p.Ser2049Ter)

SNV
Germline

ChrX:32287673

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_878911532

1 SubmittersRCV001390874

NM_004006.3(DMD):c.5404C>T (p.Gln1802Ter)

SNV
Germline

ChrX:32348450

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1386485242

1 SubmittersRCV001381880

NM_004006.3(DMD):c.4864G>T (p.Glu1622Ter)

SNV
Germline

ChrX:32365181

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147261270

1 SubmittersRCV001384487

NM_004006.3(DMD):c.4777G>T (p.Glu1593Ter)

SNV
Germline

ChrX:32380578

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097920711

1 SubmittersRCV001381882

NM_004006.3(DMD):c.4518+2T>G

SNV
Germline

ChrX:32389499

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147610382

1 SubmittersRCV001384089

NM_004006.3(DMD):c.4384C>T (p.Gln1462Ter)

SNV
Germline

ChrX:32389635

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147613231

1 SubmittersRCV001389666

NM_004006.3(DMD):c.4171A>T (p.Lys1391Ter)

SNV
Germline

ChrX:32411814

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147935042

1 SubmittersRCV001388178

NM_004006.3(DMD):c.4147C>T (p.Gln1383Ter)

SNV
Germline

ChrX:32411838

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147935442

1 SubmittersRCV001389667

NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)

SNV
Germline

ChrX:32454754

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1263708289

2 SubmittersRCV001382078 RCV001780311

NM_004006.3(DMD):c.3426C>A (p.Cys1142Ter)

SNV
Germline

ChrX:32463445

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148418171

1 SubmittersRCV001381251

NM_004006.3(DMD):c.3088A>T (p.Lys1030Ter)

SNV
Germline

ChrX:32468572

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148459492

1 SubmittersRCV001383870

NM_004006.3(DMD):c.2994T>A (p.Tyr998Ter)

SNV
Germline

ChrX:32468666

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1472308773

1 SubmittersRCV001382079

NM_004006.3(DMD):c.2917G>T (p.Glu973Ter)

SNV
Germline

ChrX:32472196

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148484887

1 SubmittersRCV001386397

NM_004006.3(DMD):c.2695G>T (p.Glu899Ter)

SNV
Germline

ChrX:32485027

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148583804

1 SubmittersRCV001385863

NM_004006.3(DMD):c.2605C>T (p.Gln869Ter)

SNV
Germline

ChrX:32491294

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148630465

1 SubmittersRCV001384765

NM_004006.3(DMD):c.2521C>T (p.Gln841Ter)

SNV
Germline

ChrX:32491378

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148631382

1 SubmittersRCV001384766

NM_004006.3(DMD):c.2353C>T (p.Gln785Ter)

SNV
Germline

ChrX:32501782

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148691015

1 SubmittersRCV001384767

NM_004006.3(DMD):c.1961T>A (p.Leu654Ter)

SNV
Germline

ChrX:32565733

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1057518312

1 SubmittersRCV001387174

NM_004006.3(DMD):c.1721G>A (p.Trp574Ter)

SNV
Germline

ChrX:32573621

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149137069

1 SubmittersRCV001387176

NM_004006.3(DMD):c.1696G>T (p.Glu566Ter)

SNV
Germline

ChrX:32573753

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149138125

1 SubmittersRCV001382917

NM_004006.3(DMD):c.1603-2A>T

SNV
Germline

ChrX:32573848

Pathogenic

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

rs_773779441

2 SubmittersRCV001384959 RCV002471105

NM_004006.3(DMD):c.1339A>T (p.Arg447Ter)

SNV
Germline

ChrX:32614446

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149350435

1 SubmittersRCV001387175

NM_004006.3(DMD):c.1240G>T (p.Glu414Ter)

SNV
Germline

ChrX:32644223

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2146820376

1 SubmittersRCV001383466

NM_004006.3(DMD):c.790G>T (p.Glu264Ter)

SNV
Germline

ChrX:32699153

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147604088

1 SubmittersRCV001385910

NM_004006.3(DMD):c.568C>T (p.Gln190Ter)

SNV
Germline

ChrX:32809574

Pathogenic

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Single Submitter

rs_2148751523

2 SubmittersRCV001383372 RCV001826163

NM_004006.3(DMD):c.388G>T (p.Gly130Ter)

SNV
Germline

ChrX:32816610

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148807631

2 SubmittersRCV001385391 RCV003490237

NM_004006.3(DMD):c.94-2A>C

SNV
Germline

ChrX:32849822

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603448428

1 SubmittersRCV001384818

NM_004006.3(DMD):c.31+1G>A

SNV
Germline

ChrX:33211281

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123923

1 SubmittersRCV001382430

NM_004006.3(DMD):c.3753C>T (p.Cys1251=)

SNV
Germline

ChrX:32448489

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_778912710

2 SubmittersRCV001424968 RCV004611819

NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)

SNV
Germline

ChrX:32491467

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_868641814

3 SubmittersRCV001433672 RCV001831490 RCV003145662

NM_004006.3(DMD):c.7127A>T (p.Gln2376Leu)

SNV
Germline

ChrX:31836791

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_774228400

2 SubmittersRCV001454684 RCV004038537

NM_004006.3(DMD):c.3777G>A (p.Lys1259=)

SNV
Germline

ChrX:32448465

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1445951268

3 SubmittersRCV001469209 RCV001826298 RCV003382596

NM_004006.3(DMD):c.3719T>G (p.Leu1240Arg)

SNV
Germline

ChrX:32448523

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_769030725

2 SubmittersRCV001466401 RCV004038654

NM_004006.3(DMD):c.3696A>G (p.Ala1232=)

SNV
Germline

ChrX:32448546

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_369971712

4 SubmittersRCV001476573 RCV002359070 RCV003145669 RCV001826307

NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)

SNV
Germline

ChrX:32491427

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_778811645

4 SubmittersRCV001455588 RCV001826280 RCV002449224

NM_004006.3(DMD):c.9164-3C>T

SNV
Germline

ChrX:31323661

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1237165748

3 SubmittersRCV001486574 RCV003145671 RCV003160966

NM_004006.3(DMD):c.1998A>T (p.Ser666=)

SNV
Germline

ChrX:32545329

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1289591017

2 SubmittersRCV001501453 RCV001751777

NM_004006.3(DMD):c.1924G>A (p.Ala642Thr)

SNV
Germline

ChrX:32565770

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_779138399

2 SubmittersRCV001517310 RCV002414239

NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)

SNV
Germline

ChrX:32342159

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_377039314

4 SubmittersRCV001531764 RCV002359155 RCV002495860 RCV002568898

NM_004006.3(DMD):c.2584G>T (p.Glu862Ter)

SNV
Germline

ChrX:32491315

Pathogenic

Abnormality of the musculature
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2042975774

2 SubmittersRCV001814371 RCV002568240

NM_004006.3(DMD):c.3163-1G>T

SNV
Germline

ChrX:32464700

Likely pathogenic

Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148428395

3 SubmittersRCV001551244 RCV001832750

NM_004006.3(DMD):c.404A>G (p.Asn135Ser)

SNV
Germline

ChrX:32816594

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_764808552

3 SubmittersRCV001549451 RCV002072027 RCV002324134

NM_004006.3(DMD):c.9975-1G>T

SNV
Germline

ChrX:31180482

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1556040444

1 SubmittersRCV001554270

NM_004006.3(DMD):c.9224+5G>A

SNV
Germline

ChrX:31323593

Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1556503812

3 SubmittersRCV001589795 RCV001810102

NM_004006.3(DMD):c.7006C>A (p.Gln2336Lys)

SNV
Germline

ChrX:31875280

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_2149680307

2 SubmittersRCV001594329 RCV001866222

NM_004006.3(DMD):c.71G>A (p.Trp24Ter)

SNV
Germline

ChrX:33020161

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147755143

2 SubmittersRCV001730116 RCV002471139

NM_004006.3(DMD):c.265-1G>A

SNV
Unknown

ChrX:32823388

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148850769

1 SubmittersRCV001730127

NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln)

SNV
Germline

ChrX:32287667

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756696562

3 SubmittersRCV001733385 RCV002538716 RCV003146230

NM_004006.3(DMD):c.9076C>T (p.Leu3026Phe)

SNV
Germline

ChrX:31444489

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_749533073

3 SubmittersRCV001766893 RCV002370278 RCV003771949

NM_004006.3(DMD):c.6225G>A (p.Gln2075=)

SNV
Germline

ChrX:32287594

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1226885639

2 SubmittersRCV002540709 RCV003238461

NM_004006.3(DMD):c.1033C>T (p.Gln345Ter)

SNV
Germline

ChrX:32645080

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2146834557

1 SubmittersRCV001885150

NM_004006.3(DMD):c.1032T>A (p.Tyr344Ter)

SNV
Germline

ChrX:32645081

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2146834581

1 SubmittersRCV002250770

NM_004006.3(DMD):c.1843C>T (p.Gln615Ter)

SNV
Germline

ChrX:32565851

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149095456

2 SubmittersRCV002034547 RCV003481127

NM_004006.3(DMD):c.2169-2A>T

SNV
Germline

ChrX:32518133

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148805010

1 SubmittersRCV002541117

NM_004006.3(DMD):c.3304C>T (p.Gln1102Ter)

SNV
Germline

ChrX:32463567

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148419679

1 SubmittersRCV003513661

NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)

SNV
Germline

ChrX:32454709

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

rs_868836192

3 SubmittersRCV001781699 RCV001868835 RCV004796658

NM_004006.3(DMD):c.5637G>A (p.Trp1879Ter)

SNV
Germline

ChrX:32343236

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Single Submitter

rs_865856945

1 SubmittersRCV004796900

NM_004006.3(DMD):c.8215C>T (p.Gln2739Ter)

SNV
Germline

ChrX:31627675

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148421666

1 SubmittersRCV002544239

NM_004006.3(DMD):c.8224C>T (p.Gln2742Ter)

SNV
Germline

ChrX:31507447

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147177872

1 SubmittersRCV003226890

NM_004006.3(DMD):c.9808-1G>A

SNV
Germline

ChrX:31182905

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148335739

2 SubmittersRCV001781752 RCV002541119

NM_004006.3(DMD):c.354G>A (p.Trp118Ter)

SNV
Germline

ChrX:32823298

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148849959

2 SubmittersRCV001868836

NM_004006.3(DMD):c.826C>T (p.Gln276Ter)

SNV
Germline

ChrX:32699117

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147603245

1 SubmittersRCV002471154

NM_004006.3(DMD):c.1177C>T (p.Gln393Ter)

SNV
Germline

ChrX:32644286

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2146821938

1 SubmittersRCV003623713

NM_004006.3(DMD):c.1201C>T (p.Gln401Ter)

SNV
Germline

ChrX:32644262

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2146821257

2 SubmittersRCV001781771 RCV002541120

NM_004006.3(DMD):c.1429G>T (p.Glu477Ter)

SNV
Germline

ChrX:32614356

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1357942538

1 SubmittersRCV002541121

NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)

SNV
Germline

ChrX:32614410

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149350253

2 SubmittersRCV002541122 RCV002503263

NM_004006.3(DMD):c.745C>T (p.Gln249Ter)

SNV
Germline

ChrX:32699198

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147604940

2 SubmittersRCV001781776 RCV003512132

NM_004006.3(DMD):c.1564G>T (p.Gly522Ter)

SNV
Germline

ChrX:32595795

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_778171516

1 SubmittersRCV003513671

NM_004006.3(DMD):c.903C>A (p.Tyr301Ter)

SNV
Germline

ChrX:32697927

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147581521

1 SubmittersRCV002471155

NM_004006.3(DMD):c.2168+1G>T

SNV
Germline

ChrX:32545158

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1057518207

1 SubmittersRCV004764477

NM_004006.3(DMD):c.2276T>G (p.Leu759Ter)

SNV
Germline

ChrX:32518024

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1060502627

1 SubmittersRCV001885151

NM_004006.3(DMD):c.2299G>T (p.Glu767Ter)

SNV
Germline

ChrX:32501836

Pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148691615

2 SubmittersRCV003513667 RCV004701741

NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)

SNV
Germline

ChrX:32485053

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557380616

2 SubmittersRCV002034548 RCV002246492

NM_004006.3(DMD):c.3136C>T (p.Gln1046Ter)

SNV
Germline

ChrX:32468524

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148459016

1 SubmittersRCV002541123

NM_004006.3(DMD):c.3430C>T (p.Gln1144Ter)

SNV
Germline

ChrX:32463441

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148418069

1 SubmittersRCV001885152

NM_004006.3(DMD):c.3622C>T (p.Gln1208Ter)

SNV
Germline

ChrX:32448620

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148289012

1 SubmittersRCV002471156

NM_004006.3(DMD):c.5398G>T (p.Glu1800Ter)

SNV
Germline

ChrX:32348456

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147064556

1 SubmittersRCV002541124

NM_004006.3(DMD):c.2974C>T (p.Gln992Ter)

SNV
Germline

ChrX:32468686

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148460570

2 SubmittersRCV001781820 RCV001885153

NM_004006.3(DMD):c.5646C>A (p.Tyr1882Ter)

SNV
Germline

ChrX:32343227

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2097753394

1 SubmittersRCV003513656

NM_004006.3(DMD):c.7075C>T (p.Gln2359Ter)

SNV
Germline

ChrX:31875211

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149679784

2 SubmittersRCV001781834 RCV001868837

NM_004006.3(DMD):c.7437G>A (p.Trp2479Ter)

SNV
Germline

ChrX:31774065

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149245072

1 SubmittersRCV003513652

NM_004006.3(DMD):c.6721G>T (p.Gly2241Ter)

SNV
Germline

ChrX:31932121

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2150001373

1 SubmittersRCV003513653

NM_004006.3(DMD):c.5878G>T (p.Glu1960Ter)

SNV
Germline

ChrX:32342144

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148812748

1 SubmittersRCV002034550

NM_004006.3(DMD):c.6136C>T (p.Gln2046Ter)

SNV
Germline

ChrX:32287683

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148457829

1 SubmittersRCV002541125

NM_004006.3(DMD):c.5449-1G>C

SNV
Germline

ChrX:32346081

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147033447

1 SubmittersRCV002034551

NM_004006.3(DMD):c.6592C>T (p.Gln2198Ter)

SNV
Germline

ChrX:31968361

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2150187018

1 SubmittersRCV002541126

NM_004006.3(DMD):c.8692C>T (p.Gln2898Ter)

SNV
Germline

ChrX:31478351

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149254230

1 SubmittersRCV003513650

NM_004006.3(DMD):c.7585G>T (p.Glu2529Ter)

SNV
Germline

ChrX:31729706

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_771509836

1 SubmittersRCV001885154

NM_004006.3(DMD):c.9829G>T (p.Glu3277Ter)

SNV
Germline

ChrX:31182883

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602456175

1 SubmittersRCV002034552

NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter)

SNV
Germline

ChrX:32441251

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557359192

2 SubmittersRCV001781916 RCV002034553

NM_004006.3(DMD):c.1207G>T (p.Gly403Ter)

SNV
Germline

ChrX:32644256

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2146821137

1 SubmittersRCV003513673

NM_004006.3(DMD):c.1783G>T (p.Glu595Ter)

SNV
Germline

ChrX:32573559

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149136473

1 SubmittersRCV003513670

NM_004006.3(DMD):c.1704+1G>T

SNV
Germline

ChrX:32573744

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_794727123

2 SubmittersRCV002471158 RCV002541127

NM_004006.3(DMD):c.2292+2T>C

SNV
Germline

ChrX:32518006

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1557396600

1 SubmittersRCV003513668

NM_004006.3(DMD):c.2380G>T (p.Glu794Ter)

SNV
Germline

ChrX:32501755

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123886

1 SubmittersRCV002541128

NM_004006.3(DMD):c.2125C>T (p.Gln709Ter)

SNV
Germline

ChrX:32545202

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148959323

1 SubmittersRCV001868838

NM_004006.3(DMD):c.2623-2A>G

SNV
Germline

ChrX:32485101

Pathogenic

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148584710

2 SubmittersRCV003513665 RCV004796831

NM_004006.3(DMD):c.103C>T (p.Gln35Ter)

SNV
Germline

ChrX:32849811

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149015656

2 SubmittersRCV001781953 RCV002034554

NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter)

SNV
Germline

ChrX:32448468

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569562933

3 SubmittersRCV002471159

NM_004006.3(DMD):c.4499C>A (p.Ser1500Ter)

SNV
Germline

ChrX:32389520

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147610804

2 SubmittersRCV001781958 RCV001885155

NM_004006.3(DMD):c.4354C>T (p.Gln1452Ter)

SNV
Germline

ChrX:32389665

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147613652

1 SubmittersRCV002280907

NM_004006.3(DMD):c.10086+2T>C

SNV
Germline

ChrX:31180368

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148310866

2 SubmittersRCV001781985 RCV002541129

NM_004006.3(DMD):c.163G>T (p.Glu55Ter)

SNV
Germline

ChrX:32849751

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1603448406

1 SubmittersRCV002544241

NM_004006.3(DMD):c.531-1G>A

SNV
Germline

ChrX:32809612

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569526579

1 SubmittersRCV003513674

NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)

SNV
Germline

ChrX:32595849

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149265022

2 SubmittersRCV002254357 RCV003512133

NM_004006.3(DMD):c.1474C>T (p.Gln492Ter)

SNV
Germline

ChrX:32614311

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149349537

1 SubmittersRCV003513672

NM_004006.3(DMD):c.3516G>A (p.Trp1172Ter)

SNV
Germline

ChrX:32454749

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_865974846

1 SubmittersRCV001868839

NM_004006.3(DMD):c.3544G>T (p.Glu1182Ter)

SNV
Germline

ChrX:32454721

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148348645

1 SubmittersRCV003513660

NM_004006.3(DMD):c.2949+1G>T

SNV
Unknown

ChrX:32472163

Pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

rs_1557374482

1 SubmittersRCV003384308

NM_004006.3(DMD):c.3277-1G>C

SNV
Germline

ChrX:32463595

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148419974

1 SubmittersRCV003513662

NM_004006.3(DMD):c.6238C>T (p.Gln2080Ter)

SNV
Germline

ChrX:32287581

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1340785309

1 SubmittersRCV003513655

NM_004006.3(DMD):c.6259A>T (p.Lys2087Ter)

SNV
Germline

ChrX:32287560

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148456625

1 SubmittersRCV002034555

NM_004006.3(DMD):c.6949G>T (p.Glu2317Ter)

SNV
Germline

ChrX:31875337

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149680574

1 SubmittersRCV002541130

NM_004006.3(DMD):c.9913G>T (p.Glu3305Ter)

SNV
Germline

ChrX:31182799

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148334279

1 SubmittersRCV003107850

NM_004006.3(DMD):c.8420G>A (p.Trp2807Ter)

SNV
Germline

ChrX:31496915

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147076359

1 SubmittersRCV002034556

NM_004006.3(DMD):c.7576C>T (p.Gln2526Ter)

SNV
Germline

ChrX:31729715

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149018402

1 SubmittersRCV001885156

NM_004006.3(DMD):c.8776C>T (p.Gln2926Ter)

SNV
Germline

ChrX:31478267

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149253473

1 SubmittersRCV003513649

NM_004006.3(DMD):c.8479G>T (p.Glu2827Ter)

SNV
Germline

ChrX:31496856

Pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147075563

2 SubmittersRCV001782086 RCV002541131

NM_004006.3(DMD):c.1873C>T (p.Gln625Ter)

SNV
Germline

ChrX:32565821

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2051634469

2 SubmittersRCV001868840

NM_004006.3(DMD):c.2317A>T (p.Lys773Ter)

SNV
Germline

ChrX:32501818

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_128626244

1 SubmittersRCV003513666

NM_004006.3(DMD):c.2971G>T (p.Glu991Ter)

SNV
Germline

ChrX:32468689

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_72468667

1 SubmittersRCV001868841

NM_004006.3(DMD):c.3189G>A (p.Trp1063Ter)

SNV
Germline

ChrX:32464673

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148428124

1 SubmittersRCV002541132

NM_004006.3(DMD):c.3256A>T (p.Lys1086Ter)

SNV
Unknown

ChrX:32464606

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_745585519

1 SubmittersRCV001799532

NM_004006.3(DMD):c.3274A>T (p.Arg1092Ter)

SNV
Germline

ChrX:32464588

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148427138

1 SubmittersRCV002541133

NM_004006.3(DMD):c.4793C>A (p.Ser1598Ter)

SNV
Germline

ChrX:32380562

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147470500

1 SubmittersRCV002541134

NM_004006.3(DMD):c.4852C>T (p.Gln1618Ter)

SNV
Germline

ChrX:32365193

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1085307535

1 SubmittersRCV002541135

NM_004006.3(DMD):c.5209C>T (p.Gln1737Ter)

SNV
Germline

ChrX:32362904

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147234195

1 SubmittersRCV002541136

NM_004006.3(DMD):c.5009G>A (p.Trp1670Ter)

SNV
Germline

ChrX:32365036

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147258786

1 SubmittersRCV002541137

NM_004006.3(DMD):c.6250C>T (p.Gln2084Ter)

SNV
Germline

ChrX:32287569

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148456727

1 SubmittersRCV001885157

NM_004006.3(DMD):c.7471C>T (p.Gln2491Ter)

SNV
Germline

ChrX:31774031

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149244826

1 SubmittersRCV002034557

NM_004006.3(DMD):c.9445C>T (p.Gln3149Ter)

SNV
Germline

ChrX:31209616

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148592023

1 SubmittersRCV001868842

NM_004006.3(DMD):c.9739C>T (p.Gln3247Ter)

SNV
Germline

ChrX:31204029

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148541048

1 SubmittersRCV002541138

NM_004006.3(DMD):c.9164-2A>G

SNV
Germline

ChrX:31323660

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148297581

1 SubmittersRCV002541139

NM_004006.3(DMD):c.5444A>G (p.Asp1815Gly)

SNV
Germline

ChrX:32348410

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147063753

1 SubmittersRCV003513658

NM_004006.3(DMD):c.4519-5C>G

SNV
Germline

ChrX:32386470

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147560185

1 SubmittersRCV002471163 RCV003314017

NM_004006.3(DMD):c.9362-1215A>G

SNV
Germline

ChrX:31210914

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided
DMD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148603634

3 SubmittersRCV002541191 RCV004699469 RCV004738383

NM_004006.3(DMD):c.649+5G>A

SNV
Germline

ChrX:32809488

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1557047808

1 SubmittersRCV001885180

NM_004006.3(DMD):c.4846-1G>C

SNV
Germline

ChrX:32365200

Likely pathogenic

Qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603631757

2 SubmittersRCV001797905 RCV001868902

NM_004006.3(DMD):c.8028-1G>T

SNV
Germline

ChrX:31627863

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148423696

1 SubmittersRCV001805736

NM_004006.3(DMD):c.9484G>T (p.Glu3162Ter)

SNV
Germline

ChrX:31209577

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_778367724

1 SubmittersRCV001808175

NM_004006.3(DMD):c.5114C>A (p.Ser1705Ter)

SNV
Somatic

ChrX:32364622

Likely pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

rs_2097848034

1 SubmittersRCV001843342

NM_004006.3(DMD):c.6614+1G>C

SNV
Germline

ChrX:31968338

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2150186856

1 SubmittersRCV001848597

NM_004006.3(DMD):c.3786+2T>A

SNV
Germline

ChrX:32448454

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148287085

1 SubmittersRCV002025911

NM_004006.3(DMD):c.10395-1G>C

SNV
Germline

ChrX:31169602

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602338283

1 SubmittersRCV002025937

NM_004006.3(DMD):c.10223+3G>C

SNV
Germline

ChrX:31178666

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148290255

1 SubmittersRCV002025947

NM_004006.3(DMD):c.10103A>G (p.Asp3368Gly)

SNV
Germline

ChrX:31178789

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2148292190

2 SubmittersRCV002025973 RCV003146475

NM_004006.3(DMD):c.10010G>A (p.Cys3337Tyr)

SNV
Germline

ChrX:31180446

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2041037870

2 SubmittersRCV002025983 RCV003146476

NM_004006.3(DMD):c.1591G>T (p.Glu531Ter)

SNV
Germline

ChrX:32595768

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149264484

1 SubmittersRCV001900883

NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser)

SNV
Germline

ChrX:32342113

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_951731570

3 SubmittersRCV001955325 RCV002352614 RCV003482386

NM_004006.3(DMD):c.5273C>A (p.Ser1758Ter)

SNV
Germline

ChrX:32362840

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147233083

1 SubmittersRCV001918968

NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter)

SNV
Germline

ChrX:31223097

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147071577

2 SubmittersRCV001924063 RCV002307795

NM_004006.3(DMD):c.1310C>A (p.Ala437Asp)

SNV
Germline

ChrX:32644153

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1556875180

2 SubmittersRCV001934255 RCV003167415

NM_004006.3(DMD):c.5155-1G>C

SNV
Germline

ChrX:32362959

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1220757614

1 SubmittersRCV002028469

NM_004006.3(DMD):c.5155-1G>T

SNV
Germline

ChrX:32362959

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1220757614

1 SubmittersRCV001993633

NM_004006.3(DMD):c.646G>T (p.Glu216Ter)

SNV
Germline

ChrX:32809496

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148750599

1 SubmittersRCV001999749

NM_004006.3(DMD):c.3010A>T (p.Lys1004Ter)

SNV
Germline

ChrX:32468650

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148460313

1 SubmittersRCV001917741

NM_004006.3(DMD):c.6262G>C (p.Val2088Leu)

SNV
Germline

ChrX:32287557

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1215888256

2 SubmittersRCV001961430 RCV004612051

NM_004006.3(DMD):c.1389G>A (p.Trp463Ter)

SNV
Germline

ChrX:32614396

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149350132

1 SubmittersRCV001889439

NM_004006.3(DMD):c.2950-1G>T

SNV
Germline

ChrX:32468711

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148460867

1 SubmittersRCV001958160

NM_004006.3(DMD):c.8369G>A (p.Arg2790Gln)

SNV
Germline

ChrX:31507302

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_2147175359

2 SubmittersRCV001969235 RCV004990521

NM_004006.3(DMD):c.6762+1G>A

SNV
Germline

ChrX:31932079

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_886039534

1 SubmittersRCV001937222

NM_004006.3(DMD):c.5740-1G>T

SNV
Germline

ChrX:32342283

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148813707

2 SubmittersRCV001930006 RCV002246562

NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)

SNV
Germline

ChrX:31444600

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2065154326

2 SubmittersRCV001997093 RCV002307804

NM_004006.3(DMD):c.9163+2T>C

SNV
Germline

ChrX:31348554

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1556539065

1 SubmittersRCV002007967

NM_004006.3(DMD):c.9287-2A>T

SNV
Germline

ChrX:31223123

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147071947

1 SubmittersRCV001916591

NM_004006.3(DMD):c.1299C>A (p.Cys433Ter)

SNV
Germline

ChrX:32644164

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_372135475

1 SubmittersRCV001940749

NM_004006.3(DMD):c.1483-1G>T

SNV
Germline

ChrX:32595877

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_863224982

1 SubmittersRCV001884956

NM_004006.3(DMD):c.7543-2A>G

SNV
Germline

ChrX:31729750

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149018666

1 SubmittersRCV001971490

NM_004006.3(DMD):c.9645C>G (p.Tyr3215Ter)

SNV
Germline

ChrX:31206586

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148563935

1 SubmittersRCV001929042

NM_004006.3(DMD):c.4628A>G (p.Glu1543Gly)

SNV
Germline

ChrX:32386356

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_746681404

2 SubmittersRCV001980295 RCV003382779

NM_004006.3(DMD):c.472A>C (p.Asn158His)

SNV
Germline

ChrX:32816526

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2148806453

3 SubmittersRCV002038171 RCV002337136 RCV003146479

NM_004006.3(DMD):c.7603C>T (p.Gln2535Ter)

SNV
Germline

ChrX:31729688

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149018213

1 SubmittersRCV001993245

NM_004006.3(DMD):c.2870A>C (p.Gln957Pro)

SNV
Germline

ChrX:32472243

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148485378

1 SubmittersRCV001985971

NM_004006.3(DMD):c.7048C>T (p.Gln2350Ter)

SNV
Germline

ChrX:31875238

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149679978

1 SubmittersRCV001916241

NM_004006.3(DMD):c.4345-1G>C

SNV
Germline

ChrX:32389675

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147613901

1 SubmittersRCV002016299

NM_004006.3(DMD):c.1603-2A>G

SNV
Germline

ChrX:32573848

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_773779441

1 SubmittersRCV001942057

NM_004006.3(DMD):c.1915A>C (p.Lys639Gln)

SNV
Germline

ChrX:32565779

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_2149094935

3 SubmittersRCV002025098 RCV004042476 RCV002479655

NM_004006.3(DMD):c.10753C>T (p.Gln3585Ter)

SNV
Germline

ChrX:31147319

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147933949

1 SubmittersRCV001895634

NM_004006.3(DMD):c.4273G>T (p.Glu1425Ter)

SNV
Germline

ChrX:32390142

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147621084

1 SubmittersRCV001895695

NM_004006.3(DMD):c.9807+1G>A

SNV
Germline

ChrX:31203960

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569460610

1 SubmittersRCV001879051

NM_004006.3(DMD):c.5699T>A (p.Leu1900Ter)

SNV
Germline

ChrX:32343174

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1057518866

1 SubmittersRCV001938844

NM_004006.3(DMD):c.10224-1G>C

SNV
Germline

ChrX:31177971

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148280872

1 SubmittersRCV002044363

NM_004006.3(DMD):c.4515T>A (p.Cys1505Ter)

SNV
Germline

ChrX:32389504

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147610488

1 SubmittersRCV001863961

NM_004006.3(DMD):c.8270A>G (p.Glu2757Gly)

SNV
Germline

ChrX:31507401

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201996040

2 SubmittersRCV001964768 RCV003146371

NM_004006.3(DMD):c.10855C>T (p.Gln3619Ter)

SNV
Germline

ChrX:31146357

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147921886

1 SubmittersRCV001942342

NM_004006.3(DMD):c.8217+2T>G

SNV
Germline

ChrX:31627671

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148421651

1 SubmittersRCV001958611

NM_004006.3(DMD):c.6118-1G>C

SNV
Germline

ChrX:32287702

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060502656

2 SubmittersRCV001958641 RCV003146411

NM_004006.3(DMD):c.531-2A>T

SNV
Germline

ChrX:32809613

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_398123985

1 SubmittersRCV001970074

NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)

SNV
Germline

ChrX:31204101

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1319200626

3 SubmittersRCV001900723 RCV003156355 RCV003303266

NM_004006.3(DMD):c.1491A>G (p.Gln497=)

SNV
Germline

ChrX:32595868

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_2149265146

2 SubmittersRCV002045992 RCV004046781

NM_004006.3(DMD):c.9807+1G>C

SNV
Germline

ChrX:31203960

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569460610

2 SubmittersRCV001880911

NM_004006.3(DMD):c.3103C>T (p.Gln1035Ter)

SNV
Germline

ChrX:32468557

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_753006232

1 SubmittersRCV001949415

NM_004006.3(DMD):c.6937C>T (p.Gln2313Ter)

SNV
Germline

ChrX:31875349

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149680612

1 SubmittersRCV001884073

NM_004006.3(DMD):c.10921+2T>C

SNV
Germline

ChrX:31146289

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147921052

2 SubmittersRCV002019842 RCV004571936

NM_004006.3(DMD):c.961-1G>C

SNV
Germline

ChrX:32645153

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1602469384

1 SubmittersRCV001953668

NM_004006.3(DMD):c.5146G>A (p.Val1716Met)

SNV
Germline

ChrX:32364590

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_748814615

3 SubmittersRCV002008850 RCV002479680 RCV004612075

NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter)

SNV
Germline

ChrX:32389674

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147613866

2 SubmittersRCV001982003 RCV002307797

NM_004006.3(DMD):c.7542+1G>A

SNV
Germline

ChrX:31773959

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149244412

1 SubmittersRCV001956494

NM_004006.3(DMD):c.4627G>T (p.Glu1543Ter)

SNV
Germline

ChrX:32386357

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147558029

1 SubmittersRCV001956508

NM_004006.3(DMD):c.7792C>T (p.Gln2598Ter)

SNV
Germline

ChrX:31679455

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148733074

1 SubmittersRCV001956539

NM_004006.3(DMD):c.9807+5G>C

SNV
Germline

ChrX:31203956

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_1569460607

1 SubmittersRCV001881161

NM_004006.3(DMD):c.7490G>T (p.Arg2497Met)

SNV
Germline

ChrX:31774012

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

rs_1312256471

2 SubmittersRCV001980697 RCV002479689

NM_004006.3(DMD):c.3603+2053G>C

SNV
Germline

ChrX:32452609

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148332252

1 SubmittersRCV002026915

NM_004006.3(DMD):c.10135A>T (p.Lys3379Ter)

SNV
Germline

ChrX:31178757

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148291755

1 SubmittersRCV001913532

NM_004006.3(DMD):c.9268G>T (p.Glu3090Ter)

SNV
Germline

ChrX:31260973

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147648996

1 SubmittersRCV001892180

NM_004006.3(DMD):c.8572A>T (p.Lys2858Ter)

SNV
Germline

ChrX:31479079

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2149257421

1 SubmittersRCV001867045

NM_004006.3(DMD):c.2365G>A (p.Glu789Lys)

SNV
Germline

ChrX:32501770

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Progressive muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_763844939

3 SubmittersRCV001887989 RCV002225942 RCV003994340

NM_004006.3(DMD):c.650-1G>T

SNV
Germline

ChrX:32699294

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2063903818

1 SubmittersRCV002024965

NM_004006.3(DMD):c.5363C>A (p.Ser1788Ter)

SNV
Germline

ChrX:32348491

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_199774535

1 SubmittersRCV002052216

NM_004006.3(DMD):c.5183G>A (p.Arg1728His)

SNV
Germline

ChrX:32362930

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_780599147

2 SubmittersRCV002087904 RCV003161446

NM_004006.3(DMD):c.732C>T (p.Ser244=)

SNV
Germline

ChrX:32699211

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_756282849

2 SubmittersRCV002088550 RCV002382334

NM_004006.3(DMD):c.2380+16G>A

SNV
Germline

ChrX:32501739

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_371594190

2 SubmittersRCV002083427 RCV004017898

NM_004006.3(DMD):c.4234-4A>G

SNV
Germline

ChrX:32390185

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_764846703

2 SubmittersRCV002109626 RCV002331744

NM_004006.3(DMD):c.6912+1G>A

SNV
Germline

ChrX:31929595

Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

rs_746082869

3 SubmittersRCV002224533 RCV003093881 RCV004782906

NM_004006.3(DMD):c.631A>T (p.Lys211Ter)

SNV
Germline

ChrX:32809511

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148750714

2 SubmittersRCV002227333 RCV003388624

NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)

SNV
Germline

ChrX:31627684

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148421809

2 SubmittersRCV002249884 RCV002307850

NM_004006.3(DMD):c.8401G>T (p.Glu2801Ter)

SNV
Germline

ChrX:31496934

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2147076595

1 SubmittersRCV002251271

NM_004006.3(DMD):c.2622G>C (p.Lys874Asn)

SNV
Germline

ChrX:32491277

Likely pathogenic

Qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148630194

2 SubmittersRCV002271796 RCV003512144

NM_004006.3(DMD):c.6485T>A (p.Leu2162Ter)

SNV
Germline

ChrX:31968468

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002282801 RCV004527445

NM_004006.3(DMD):c.2168+2T>C

SNV
Germline

ChrX:32545157

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002282867 RCV003096340

NM_004006.3(DMD):c.2873C>A (p.Ser958Ter)

SNV
Unknown

ChrX:32472240

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002306735

NM_004006.3(DMD):c.5584A>T (p.Lys1862Ter)

SNV
Unknown

ChrX:32345945

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002306738

NM_004006.3(DMD):c.1346T>A (p.Leu449Ter)

SNV
Unknown

ChrX:32614439

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002306799

NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)

SNV
Germline

ChrX:32464678

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306814 RCV003099149

NM_004006.3(DMD):c.4715T>A (p.Leu1572Ter)

SNV
Unknown

ChrX:32380640

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002309572

NM_004006.3(DMD):c.5767A>T (p.Lys1923Ter)

SNV
Unknown

ChrX:32342255

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002309981

NM_004006.3(DMD):c.5548A>T (p.Lys1850Ter)

SNV
Unknown

ChrX:32345981

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002307955

NM_004006.3(DMD):c.9534T>A (p.Cys3178Ter)

SNV
Unknown

ChrX:31209527

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002308054

NM_004006.3(DMD):c.5251A>T (p.Lys1751Ter)

SNV
Unknown

ChrX:32362862

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002308089

NM_004006.3(DMD):c.1840A>T (p.Lys614Ter)

SNV
Unknown

ChrX:32565854

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002308298

NM_004006.3(DMD):c.2692A>T (p.Lys898Ter)

SNV
Unknown

ChrX:32485030

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002309175

NM_004006.3(DMD):c.3928G>T (p.Glu1310Ter)

SNV
Unknown

ChrX:32438384

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002309200

NM_004006.3(DMD):c.9856A>T (p.Arg3286Ter)

SNV
Unknown

ChrX:31182856

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002309204

NM_004006.3(DMD):c.9284T>A (p.Leu3095Ter)

SNV
Unknown

ChrX:31260957

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002309210

NM_004006.3(DMD):c.986C>A (p.Ser329Ter)

SNV
Unknown

ChrX:32645127

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002309435

NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)

SNV
Germline

ChrX:32468500

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306826 RCV003099157

NM_004006.3(DMD):c.4943T>A (p.Leu1648Ter)

SNV
Unknown

ChrX:32365102

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002310280

NM_004006.3(DMD):c.9957T>A (p.Cys3319Ter)

SNV
Unknown

ChrX:31182755

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002310314

NM_004006.3(DMD):c.9219T>A (p.Tyr3073Ter)

SNV
Unknown

ChrX:31323603

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002310538

NM_004006.3(DMD):c.3914T>C (p.Val1305Ala)

SNV
Germline

ChrX:32441187

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002357517 RCV003512148

NM_004006.3(DMD):c.4331T>C (p.Ile1444Thr)

SNV
Germline

ChrX:32390084

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002332132 RCV003094652

NM_004006.3(DMD):c.4550C>T (p.Ser1517Phe)

SNV
Germline

ChrX:32386434

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002340164 RCV003094754

NM_004006.3(DMD):c.8350T>C (p.Phe2784Leu)

SNV
Germline

ChrX:31507321

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002434719 RCV003099920

NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)

SNV
Germline

ChrX:31478995

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

5 SubmittersRCV002373326 RCV003099996 RCV003146550

NM_004006.3(DMD):c.9122C>A (p.Ala3041Asp)

SNV
Germline

ChrX:31348597

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002378714 RCV003100101

NM_004006.3(DMD):c.859G>T (p.Glu287Ter)

SNV
Germline

ChrX:32697971

Pathogenic

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002447962 RCV003103516

NM_004006.3(DMD):c.1447C>T (p.Leu483Phe)

SNV
Germline

ChrX:32614338

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002394474 RCV003774332

NM_004006.3(DMD):c.2600A>G (p.Lys867Arg)

SNV
Germline

ChrX:32491299

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002437135 RCV003102014

NM_004006.3(DMD):c.2573C>T (p.Thr858Ile)

SNV
Germline

ChrX:32491326

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002452785 RCV003621662

NM_004006.3(DMD):c.2717T>C (p.Phe906Ser)

SNV
Germline

ChrX:32485005

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002431231 RCV003775348

NM_004006.3(DMD):c.3015G>T (p.Glu1005Asp)

SNV
Germline

ChrX:32468645

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002435818 RCV003102976

NM_004006.3(DMD):c.181A>T (p.Lys61Ter)

SNV
Germline

ChrX:32849733

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002470679

NM_004006.3(DMD):c.2566C>T (p.Gln856Ter)

SNV
Germline

ChrX:32491333

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002470687

NM_004006.3(DMD):c.4198A>T (p.Lys1400Ter)

SNV
Germline

ChrX:32411787

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002470695

NM_004006.3(DMD):c.6382A>T (p.Arg2128Ter)

SNV
Germline

ChrX:32216972

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002471228

NM_004006.3(DMD):c.7000G>T (p.Glu2334Ter)

SNV
Germline

ChrX:31875286

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002471229

NM_004006.3(DMD):c.7819A>T (p.Lys2607Ter)

SNV
Germline

ChrX:31679428

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002471231

NM_004006.3(DMD):c.9163+2T>A

SNV
Germline

ChrX:31348554

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002471234

NM_004006.3(DMD):c.3277-1G>A

SNV
Germline

ChrX:32463595

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002471238

NM_004006.3(DMD):c.9224+2T>A

SNV
Germline

ChrX:31323596

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002471239

NM_004006.3(DMD):c.9361+1G>T

SNV
Germline

ChrX:31223046

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002471240 RCV003992668

NM_004006.3(DMD):c.31+8C>T

SNV
Germline

ChrX:33211274

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003053129 RCV003331424

NM_004006.3(DMD):c.6488A>G (p.Asn2163Ser)

SNV
Germline

ChrX:31968465

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003077012 RCV004614333

NM_004006.3(DMD):c.2337T>G (p.Asp779Glu)

SNV
Germline

ChrX:32501798

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064313 RCV003491209

NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)

SNV
Germline

ChrX:31182775

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064683

NM_004006.3(DMD):c.9563+1215A>G

SNV
Germline

ChrX:31208283

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003064685

NM_004006.3(DMD):c.8560G>T (p.Glu2854Ter)

SNV
Germline

ChrX:31479091

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003041432

NM_004006.3(DMD):c.8390+2T>G

SNV
Germline

ChrX:31507279

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003050598

NM_004006.3(DMD):c.6928C>T (p.Pro2310Ser)

SNV
Germline

ChrX:31875358

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003065060 RCV004992467

NM_004006.3(DMD):c.1412C>A (p.Thr471Lys)

SNV
Germline

ChrX:32614373

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003061516 RCV003384323

NM_004006.3(DMD):c.3511G>A (p.Glu1171Lys)

SNV
Germline

ChrX:32454754

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003085634 RCV004071747

NM_004006.3(DMD):c.2703A>T (p.Gly901=)

SNV
Germline

ChrX:32485019

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003079789 RCV003143477

NM_004006.3(DMD):c.4234-2A>G

SNV
Germline

ChrX:32390183

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003093504

NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)

SNV
Germline

ChrX:32287529

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003084929 RCV003465962

NM_004006.3(DMD):c.2888C>G (p.Ser963Cys)

SNV
Germline

ChrX:32472225

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003090245 RCV004073150 RCV004809899

NM_004006.3(DMD):c.7909G>A (p.Val2637Ile)

SNV
Germline

ChrX:31658108

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003084346 RCV004779433 RCV004614354

NM_004006.3(DMD):c.397C>T (p.Gln133Ter)

SNV
Germline

ChrX:32816601

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002602796

NM_004006.3(DMD):c.4640C>T (p.Ala1547Val)

SNV
Germline

ChrX:32386344

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002611206 RCV003143512

NM_004006.3(DMD):c.8767G>A (p.Ala2923Thr)

SNV
Germline

ChrX:31478276

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002606938 RCV003143511

NM_004006.3(DMD):c.4227A>T (p.Glu1409Asp)

SNV
Germline

ChrX:32411758

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002615749 RCV004992523

NM_004006.3(DMD):c.7891C>T (p.Arg2631Cys)

SNV
Germline

ChrX:31658126

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002638371 RCV003294591

NM_004006.3(DMD):c.9649+5G>A

SNV
Germline

ChrX:31206577

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003112437

NM_004006.3(DMD):c.4019T>C (p.Ile1340Thr)

SNV
Germline

ChrX:32438293

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002579931 RCV003308150

NM_004006.3(DMD):c.4615A>G (p.Lys1539Glu)

SNV
Germline

ChrX:32386369

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002575849 RCV004064323

NM_004006.3(DMD):c.1812+1G>T

SNV
Germline

ChrX:32573529

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002603796

NM_004006.3(DMD):c.7201-1G>C

SNV
Germline

ChrX:31820084

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002635435

NM_004006.3(DMD):c.10554-1G>C

SNV
Germline

ChrX:31147519

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002690461

NM_004006.3(DMD):c.3741C>A (p.Tyr1247Ter)

SNV
Germline

ChrX:32448501

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002755187

NM_004006.3(DMD):c.6912+1G>T

SNV
Germline

ChrX:31929595

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002736008

NM_004006.3(DMD):c.650-5T>C

SNV
Germline

ChrX:32699298

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002786180 RCV003308277

NM_004006.3(DMD):c.9225-1G>T

SNV
Germline

ChrX:31261017

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002819669

NM_004006.3(DMD):c.5081G>A (p.Trp1694Ter)

SNV
Germline

ChrX:32364655

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002842314

NM_004006.3(DMD):c.6046C>T (p.Gln2016Ter)

SNV
Germline

ChrX:32310153

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002839021

NM_004006.3(DMD):c.1993-2A>G

SNV
Germline

ChrX:32545336

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002856949

NM_004006.3(DMD):c.7062T>A (p.Tyr2354Ter)

SNV
Germline

ChrX:31875224

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002847007

NM_004006.3(DMD):c.3523C>T (p.Gln1175Ter)

SNV
Germline

ChrX:32454742

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002871066

NM_004006.3(DMD):c.6751G>T (p.Glu2251Ter)

SNV
Germline

ChrX:31932091

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002862244

NM_004006.3(DMD):c.3433-1G>C

SNV
Germline

ChrX:32454833

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002838466

NM_004006.3(DMD):c.3921+2T>C

SNV
Germline

ChrX:32441178

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002881447

NM_004006.3(DMD):c.9974+2T>G

SNV
Germline

ChrX:31182736

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002858046

NM_004006.3(DMD):c.5021T>A (p.Leu1674Ter)

SNV
Germline

ChrX:32365024

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002871659

NM_004006.3(DMD):c.7660+2T>G

SNV
Germline

ChrX:31729629

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002866986

NM_004006.3(DMD):c.3225G>A (p.Trp1075Ter)

SNV
Germline

ChrX:32464637

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002917154

NM_004006.3(DMD):c.3637A>T (p.Lys1213Ter)

SNV
Germline

ChrX:32448605

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002927393

NM_004006.3(DMD):c.8937+1G>A

SNV
Germline

ChrX:31478105

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002927394

NM_004006.3(DMD):c.548G>A (p.Trp183Ter)

SNV
Germline

ChrX:32809594

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002909444

NM_004006.3(DMD):c.10155T>G (p.Tyr3385Ter)

SNV
Germline

ChrX:31178737

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002962774

NM_004006.3(DMD):c.3277-2A>G

SNV
Germline

ChrX:32463596

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002954370

NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)

SNV
Germline

ChrX:31479000

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002953754 RCV003312068 RCV003308364

NM_004006.3(DMD):c.4997G>A (p.Arg1666Gln)

SNV
Germline

ChrX:32365048

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002959160 RCV004990935

NM_004006.3(DMD):c.2499C>G (p.Ile833Met)

SNV
Germline

ChrX:32491400

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003002201 RCV003146714

NM_004006.3(DMD):c.6859G>T (p.Glu2287Ter)

SNV
Germline

ChrX:31929649

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003018115

NM_004006.3(DMD):c.5031C>G (p.Tyr1677Ter)

SNV
Germline

ChrX:32364705

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002996839

NM_004006.3(DMD):c.3922-1G>A

SNV
Germline

ChrX:32438391

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003010133

NM_004006.3(DMD):c.615T>G (p.Tyr205Ter)

SNV
Germline

ChrX:32809527

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003016601

NM_004006.3(DMD):c.2284A>T (p.Lys762Ter)

SNV
Germline

ChrX:32518016

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003030974

NM_004006.3(DMD):c.8564T>A (p.Leu2855Ter)

SNV
Germline

ChrX:31479087

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003031963

NM_004006.3(DMD):c.7098+1G>C

SNV
Germline

ChrX:31875187

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003032229

NM_004006.3(DMD):c.7231A>T (p.Lys2411Ter)

SNV
Germline

ChrX:31820053

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003024986

NM_004006.3(DMD):c.1085T>C (p.Leu362Ser)

SNV
Germline

ChrX:32645028

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003027755 RCV004068691

NM_004006.3(DMD):c.620T>A (p.Leu207Ter)

SNV
Germline

ChrX:32809522

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003054589

NM_004006.3(DMD):c.1975G>T (p.Glu659Ter)

SNV
Germline

ChrX:32565719

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003054237

NM_004006.3(DMD):c.5428G>T (p.Glu1810Ter)

SNV
Germline

ChrX:32348426

Pathogenic

Duchenne muscular dystrophy
Qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003049932 RCV003331414

NM_004006.3(DMD):c.6345A>G (p.Ile2115Met)

SNV
Germline

ChrX:32217009

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003044918 RCV003170962

NM_004006.3(DMD):c.1149+1G>T

SNV
Germline

ChrX:32644963

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003128558

NM_004006.3(DMD):c.2292+1G>A

SNV
Germline

ChrX:32518007

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003144653 RCV004763601

NM_004006.3(DMD):c.2762T>C (p.Val921Ala)

SNV
Germline

ChrX:32484960

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003146115 RCV003512195

NM_004006.3(DMD):c.10864G>C (p.Asp3622His)

SNV
Germline

ChrX:31146348

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003146152 RCV003621683 RCV004614413

NM_004006.3(DMD):c.1999C>T (p.Gln667Ter)

SNV
Unknown

ChrX:32545328

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003152873

NM_004006.3(DMD):c.2622+2T>G

SNV
Germline

ChrX:32491275

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003334424

NM_004006.3(DMD):c.5012T>G (p.Leu1671Ter)

SNV
Germline

ChrX:32365033

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003340889

NM_004006.3(DMD):c.4053G>A (p.Trp1351Ter)

SNV
Germline

ChrX:32438259

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003340897

NM_004006.3(DMD):c.7309+5G>A

SNV
Germline

ChrX:31819970

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003490724 RCV003512232

NM_004006.3(DMD):c.1318G>T (p.Glu440Ter)

SNV
Germline

ChrX:32644145

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003512423

NM_004006.3(DMD):c.6985A>T (p.Lys2329Ter)

SNV
Germline

ChrX:31875301

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003513055

NM_004006.3(DMD):c.10440C>G (p.Asn3480Lys)

SNV
Germline

ChrX:31169556

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004369108 RCV003513244

NM_004006.3(DMD):c.8530C>T (p.Gln2844Ter)

SNV
Germline

ChrX:31496805

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003512948

NM_004006.3(DMD):c.6615-1G>A

SNV
Germline

ChrX:31932228

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003512949

NM_004006.3(DMD):c.10224-2A>G

SNV
Germline

ChrX:31177972

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003513115

NM_004006.3(DMD):c.5950G>A (p.Val1984Met)

SNV
Germline

ChrX:32310249

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003513427 RCV004999960

NM_004006.3(DMD):c.6614+1G>A

SNV
Germline

ChrX:31968338

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003513654

NM_004006.3(DMD):c.9084+2T>C

SNV
Germline

ChrX:31444479

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003511777

NM_004006.3(DMD):c.8833G>T (p.Glu2945Ter)

SNV
Germline

ChrX:31478210

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003512674

NM_004006.3(DMD):c.2201G>A (p.Trp734Ter)

SNV
Germline

ChrX:32518099

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003621778

NM_004006.3(DMD):c.9808-1G>T

SNV
Germline

ChrX:31182905

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622549

NM_004006.3(DMD):c.9318T>A (p.Tyr3106Ter)

SNV
Germline

ChrX:31223090

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622605

NM_004006.3(DMD):c.956C>A (p.Ser319Ter)

SNV
Germline

ChrX:32697874

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622862

NM_004006.3(DMD):c.9172C>T (p.Gln3058Ter)

SNV
Germline

ChrX:31323650

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622706

NM_004006.3(DMD):c.9286+2T>G

SNV
Germline

ChrX:31260953

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622844

NM_004006.3(DMD):c.1993-1G>A

SNV
Germline

ChrX:32545335

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622784

NM_004006.3(DMD):c.9807+2T>A

SNV
Germline

ChrX:31203959

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622959

NM_004006.3(DMD):c.958C>T (p.Gln320Ter)

SNV
Germline

ChrX:32697872

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003622991

NM_004006.3(DMD):c.7310-2A>G

SNV
Germline

ChrX:31774194

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003623141

NM_004006.3(DMD):c.7522G>T (p.Glu2508Ter)

SNV
Germline

ChrX:31773980

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003623172

NM_004006.3(DMD):c.6913-1G>C

SNV
Germline

ChrX:31875374

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003623475

NM_004006.3(DMD):c.30T>A (p.Cys10Ter)

SNV
Germline

ChrX:33211283

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003835003

NM_004006.3(DMD):c.832-186T>G

SNV
Germline

ChrX:32698184

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003985122

NM_004006.3(DMD):c.4444A>T (p.Lys1482Ter)

SNV
Germline

ChrX:32389575

Likely pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003990937

NM_004006.3(DMD):c.10554-1G>A

SNV
Germline

ChrX:31147519

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004586403

NM_004006.3(DMD):c.2381-1G>A

SNV
Germline

ChrX:32491519

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004596038

NM_004006.3(DMD):c.3574G>T (p.Glu1192Ter)

SNV
Unknown

ChrX:32454691

Likely pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004720572

NM_004006.3(DMD):c.10484T>A (p.Leu3495Ter)

SNV
Germline

ChrX:31169512

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Single Submitter

1 SubmittersRCV004795682

NM_004006.3(DMD):c.6438+1G>A

SNV
Germline

ChrX:32216915

Pathogenic

Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004818844

NM_004006.3(DMD):c.1001T>A (p.Leu334Ter)

SNV
Unknown

ChrX:32645112

Likely pathogenic

Duchenne muscular dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004823279