Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)	SNV Germline	Chr6:129315638	Pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy Qualitative or quantitative defects of merosin	Criteria Provided Multiple Submitters No Conflicts	CA220762	rs_121913569	5 SubmittersRCV000015360 RCV000790720 RCV000818341 RCV003225924
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	SNV Germline	Chr6:129516231	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA257204	rs_121913571	7 SubmittersRCV000015361 RCV000521505 RCV003574700 RCV005042055
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)	SNV Germline	Chr6:129481381	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA257207	rs_121913570	3 SubmittersRCV000015364 RCV003330391
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	SNV Germline	Chr6:129481422	Pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Congenital Muscular Dystrophy, LAMA2-related Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases LAMA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220807	rs_121913572	16 SubmittersRCV000015366 RCV000763556 RCV001068136 RCV000790757 RCV001794447 RCV002288491 RCV002513061 RCV004532360
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)	SNV Germline	Chr6:129287893	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA123842	rs_121913573	6 SubmittersRCV000015367 RCV000287266 RCV001239611
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)	SNV Germline	Chr6:129190317	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA123845	rs_121913574	3 SubmittersRCV000015368 RCV000078747 RCV000822637
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)	SNV Germline	Chr6:129353285	Pathogenic	Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA123848	rs_121913575	6 SubmittersRCV000015369 RCV000674731 RCV001203616 RCV005357127
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)	SNV Germline	Chr6:129464444	Pathogenic	Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123851	rs_121913576	10 SubmittersRCV000015370 RCV000179066 RCV000654712 RCV000790693 RCV002476971 RCV002444431
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)	SNV Germline	Chr6:129297729	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341325	rs_121913577	6 SubmittersRCV000015371 RCV000824626 RCV001091209
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)	SNV Germline	Chr6:129486605	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342967	rs_202247792	6 SubmittersRCV000031900 RCV001352555 RCV003144116
NM_000426.4(LAMA2):c.112+1G>A	SNV Germline	Chr6:128883358	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA220740	rs_398123367	6 SubmittersRCV000790741 RCV001064438 RCV001810421 RCV003466973
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)	SNV Germline	Chr6:129192692	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy LAMA2-related disorder Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA220741	rs_141363186	13 SubmittersRCV000078748 RCV000710155 RCV001157936 RCV001081996 RCV004537311 RCV004984669 RCV005625272
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)	SNV Germline	Chr6:129192705	Conflicting classifications of pathogenicity	not specified Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Inborn genetic diseases LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA146102	rs_118083923	12 SubmittersRCV000078749 RCV000428463 RCV001081152 RCV001157937 RCV002514385 RCV004528282
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)	SNV Germline	Chr6:129049989	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA220744	rs_398123368	4 SubmittersRCV000175608 RCV001232128 RCV002498383
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=)	SNV Germline	Chr6:129252236	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA220747	rs_398123369	3 SubmittersRCV000078753 RCV000669485 RCV001403283
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)	SNV Germline	Chr6:129260729	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA220751	rs_149753273	6 SubmittersRCV000078755 RCV000290735 RCV000723694 RCV001085842
NM_000426.4(LAMA2):c.2750-1G>C	SNV Germline	Chr6:129291613	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA220757	rs_9492297	2 SubmittersRCV000176037 RCV003574708
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)	SNV Germline	Chr6:129297790	Pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA220758	rs_398123371	6 SubmittersRCV000176160 RCV000790837 RCV001854388
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)	SNV Germline	Chr6:129316089	Pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA220766	rs_398123373	11 SubmittersRCV000078767 RCV000176719 RCV000801722 RCV000763553 RCV003137619
NM_000426.4(LAMA2):c.4523+1G>A	SNV Germline	Chr6:129349385	Pathogenic	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA220770	rs_398123375	3 SubmittersRCV000177512 RCV001203362
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)	SNV Germline	Chr6:129383212	Pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA220771	rs_201632009	3 SubmittersRCV000177827 RCV000790793 RCV003736570
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)	SNV Germline	Chr6:129401308	Conflicting classifications of pathogenicity	not specified Condition: not provided LAMA2-related muscular dystrophy Polymicrogyria Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA146139	rs_56173620	12 SubmittersRCV000078779 RCV000224783 RCV000525182 RCV000656110 RCV001152792 RCV001258302
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)	SNV Germline	Chr6:129402394	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA146142	rs_139586720	8 SubmittersRCV000078780 RCV000872576 RCV001152796 RCV001719818
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)	SNV Germline	Chr6:129427800	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA220776	rs_398123378	9 SubmittersRCV000178452 RCV000546384 RCV000790831 RCV002513825 RCV005042195
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)	SNV Germline	Chr6:129445714	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA220780	rs_139824017	7 SubmittersRCV000078787 RCV000665158 RCV002483133 RCV002513826 RCV004724798
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser)	SNV Germline	Chr6:129453109	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA220783	rs_398123381	3 SubmittersRCV000078788 RCV000987776 RCV000805108
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)	SNV Germline	Chr6:129453121	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 not specified	Criteria Provided Conflicting Classifications	CA220786	rs_372592018	9 SubmittersRCV000078789 RCV000315651 RCV000529233 RCV000664766 RCV002477224 RCV003987351
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=)	SNV Germline	Chr6:129456413	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA220789	rs_398123382	4 SubmittersRCV000078790 RCV000667651 RCV001085072
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	SNV Germline	Chr6:129460287	Pathogenic	Merosin deficient congenital muscular dystrophy Elevated circulating creatine kinase concentration Myalgia Exercise-induced myalgia Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA220792	rs_398123383	10 SubmittersRCV000178685 RCV000626687 RCV000760398 RCV001202930 RCV005867854
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)	SNV Germline	Chr6:129464408	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220795	rs_150644209	7 SubmittersRCV000723641 RCV001081479 RCV004537312 RCV004639138
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)	SNV Germline	Chr6:129473308	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA220802	rs_140483001	7 SubmittersRCV000253133 RCV000404201 RCV000710156 RCV001084543
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)	SNV Germline	Chr6:129146969	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA220810	rs_398123388	9 SubmittersRCV000078803 RCV000669930 RCV000809231 RCV003387755 RCV005031564
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)	SNV Germline	Chr6:129505344	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA220816	rs_200718262	3 SubmittersRCV000712199 RCV001082052
NM_000426.4(LAMA2):c.9212-1G>A	SNV Germline	Chr6:129516189	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA220820	rs_398123391	4 SubmittersRCV000179649 RCV001319032 RCV002513827 RCV005409616
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)	SNV Germline	Chr6:129050060	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA153433	rs_142083777	10 SubmittersRCV000117443 RCV000338272 RCV000723795 RCV001086565
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)	SNV Germline	Chr6:129453097	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA231226	rs_567385461	8 SubmittersRCV000117448 RCV000622662 RCV001079381 RCV004542844
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)	SNV Germline	Chr6:129098213	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA295383	rs_143680577	7 SubmittersRCV000505761 RCV000674785 RCV000802006 RCV005867935
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu)	SNV Germline	Chr6:129177790	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided	Criteria Provided Conflicting Classifications	CA295389	rs_150394215	4 SubmittersRCV001040070 RCV001156262 RCV002505140 RCV003133149
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)	SNV Germline	Chr6:129280072	Conflicting classifications of pathogenicity	not specified Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Intellectual disability Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA295413	rs_117422805	13 SubmittersRCV000149994 RCV000723613 RCV000670870 RCV001084610 RCV001252050 RCV001156369 RCV005031655
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)	SNV Germline	Chr6:129314775	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Congenital muscular dystrophy due to partial LAMA2 deficiency Muscular dystrophy, limb-girdle, autosomal recessive 23 Intellectual disability LAMA2-related disorder not specified	Criteria Provided Conflicting Classifications	CA295392	rs_34505698	13 SubmittersRCV000550298 RCV000712184 RCV000764624 RCV001156479 RCV001270116 RCV001252051 RCV004532672 RCV005237585
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)	SNV Germline	Chr6:129465239	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA295398	rs_147185142	9 SubmittersRCV000549623 RCV000665052 RCV000724876 RCV001155019 RCV002492550 RCV002516011
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)	SNV Germline	Chr6:129486612	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA295401	rs_727502851	5 SubmittersRCV000668682 RCV000824022 RCV001781490
NM_000426.4(LAMA2):c.8690G>A (p.Arg2897Gln)	SNV Germline	Chr6:129505342	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA295407	rs_201696115	4 SubmittersRCV000149991 RCV000805156 RCV001156798
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)	SNV Germline	Chr6:129514529	Conflicting classifications of pathogenicity	not specified Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA295410	rs_146525742	7 SubmittersRCV000227406 RCV000674500 RCV000767113 RCV000707347 RCV001154393
NM_000426.4(LAMA2):c.9211+6T>C	SNV Germline	Chr6:129514601	Conflicting classifications of pathogenicity	not specified Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases Familial cancer of breast Ovarian cancer Cervical cancer	Criteria Provided Conflicting Classifications	CA246937	rs_201375881	15 SubmittersRCV000253869 RCV000515327 RCV000723450 RCV001084465 RCV001154395 RCV001810426 RCV002514873 RCV005888294 RCV005888296 RCV005888295
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)	SNV Germline	Chr6:129280086	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA180154	rs_118147866	11 SubmittersRCV000153434 RCV000224933 RCV000315412 RCV001082044
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile)	SNV Germline	Chr6:129454278	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA234205	rs_150945378	6 SubmittersRCV000723769 RCV001080713 RCV004737236
NM_000426.4(LAMA2):c.623C>A (p.Pro208His)	SNV Germline	Chr6:129098399	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA234195	rs_183890063	6 SubmittersRCV000153431 RCV000623289 RCV001240997
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=)	SNV Germline	Chr6:129267201	Conflicting classifications of pathogenicity	not specified Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA234198	rs_142126511	4 SubmittersRCV000153433 RCV000723772 RCV001081776 RCV001156366
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)	SNV Germline	Chr6:129402449	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA208811	rs_573779258	6 SubmittersRCV000194567 RCV000394813 RCV000654781 RCV001083632
NM_000426.4(LAMA2):c.5563-2A>G	SNV Germline	Chr6:129402322	Likely pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA274493	rs_786204779	1 SubmittersRCV000169663
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)	SNV Germline	Chr6:129280071	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA051537	rs_186538779	2 SubmittersRCV000664485 RCV001049286
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)	SNV Germline	Chr6:129502696	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA051962	rs_115650537	6 SubmittersRCV000591454 RCV001081139 RCV001154299 RCV004541463
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	SNV Germline	Chr6:129342379	Pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA236268	rs_200923373	10 SubmittersRCV000171401 RCV000696321 RCV000665977 RCV001375997 RCV005031701
NM_000426.4(LAMA2):c.13G>A (p.Ala5Thr)	SNV Germline	Chr6:128883258	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA238603	rs_367622987	3 SubmittersRCV000173131 RCV000818174
NM_000426.4(LAMA2):c.1782+10C>T	SNV Germline	Chr6:129192863	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA239747	rs_200030296	6 SubmittersRCV000174246 RCV000379516 RCV001086461 RCV004537362
NM_000426.4(LAMA2):c.1816A>G (p.Ile606Val)	SNV Germline	Chr6:129250145	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA240011	rs_113022759	4 SubmittersRCV000724306 RCV001240233 RCV005042371
NM_000426.4(LAMA2):c.2289G>A (p.Ala763=)	SNV Germline	Chr6:129267186	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA240654	rs_754496465	2 SubmittersRCV000175009 RCV001852135
NM_000426.4(LAMA2):c.2382C>T (p.Gly794=)	SNV Germline	Chr6:129270683	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA240825	rs_147744763	4 SubmittersRCV000724616 RCV001086152
NM_000426.4(LAMA2):c.2749+1G>C	SNV Germline	Chr6:129288059	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA275053	rs_759555791	5 SubmittersRCV000175397 RCV000799916 RCV000724720
NM_000426.4(LAMA2):c.2993G>A (p.Arg998His)	SNV Germline	Chr6:129297821	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242031	rs_144946631	6 SubmittersRCV000176161 RCV001238989 RCV002517692
NM_000426.4(LAMA2):c.3645A>G (p.Pro1215=)	SNV Germline	Chr6:129315565	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA242502	rs_794727396	2 SubmittersRCV000176525 RCV001088896
NM_000426.4(LAMA2):c.3585A>G (p.Leu1195=)	SNV Germline	Chr6:129315505	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA242505	rs_780444488	3 SubmittersRCV000176526 RCV001156480 RCV001421593
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	SNV Germline	Chr6:129349348	Conflicting classifications of pathogenicity	not specified Merosin deficient congenital muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA208965	rs_147077184	20 SubmittersRCV000194655 RCV000509423 RCV000659062 RCV000709620 RCV001081183 RCV001152676 RCV004537432 RCV005396541 RCV005889931
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)	SNV Germline	Chr6:129369957	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA244659	rs_62421010	8 SubmittersRCV000724205 RCV001080672 RCV001153957 RCV004537449
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)	SNV Germline	Chr6:129383131	Conflicting classifications of pathogenicity	not specified Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA244760	rs_370971334	6 SubmittersRCV000177826 RCV000724455 RCV000764628 RCV001248058
NM_000426.4(LAMA2):c.5562+5G>C	SNV Germline	Chr6:129401345	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA275231	rs_771046502	8 SubmittersRCV000177930 RCV000700168 RCV000723487 RCV002478589
NM_000426.4(LAMA2):c.5601T>G (p.Ser1867=)	SNV Germline	Chr6:129402362	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA244970	rs_780368037	2 SubmittersRCV000177969 RCV001088723
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)	SNV Germline	Chr6:129438679	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA245596	rs_151009169	6 SubmittersRCV000724137 RCV001081296 RCV004539668
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	SNV Germline	Chr6:129440891	Conflicting classifications of pathogenicity	Condition: not provided not specified Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Intellectual disability Inborn genetic diseases Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA205852	rs_56035053	19 SubmittersRCV000178515 RCV000192788 RCV000509541 RCV000549092 RCV001154910 RCV001252049 RCV002516776 RCV005621903
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)	SNV Germline	Chr6:129454210	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA245792	rs_78880369	5 SubmittersRCV000178615 RCV001082197 RCV001152900 RCV004539671
NM_000426.4(LAMA2):c.6816T>C (p.Asp2272=)	SNV Germline	Chr6:129456443	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA245832	rs_794727687	2 SubmittersRCV000178646 RCV002517741
NM_000426.4(LAMA2):c.7300+10T>A	SNV Germline	Chr6:129465299	Conflicting classifications of pathogenicity	not specified Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA207908	rs_200469923	11 SubmittersRCV000194022 RCV000724719 RCV001083655 RCV001155020 RCV004539676
NM_000426.4(LAMA2):c.7440-9G>A	SNV Germline	Chr6:129475381	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA246351	rs_369558532	4 SubmittersRCV000723867 RCV001088481
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)	SNV Germline	Chr6:129486534	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA275319	rs_766920075	8 SubmittersRCV000179173 RCV001225446 RCV003468868 RCV005031713
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)	SNV Germline	Chr6:129503230	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246861	rs_794727815	4 SubmittersRCV000179578 RCV002492787 RCV002515279 RCV005589784
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)	SNV Germline	Chr6:129177707	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA208610	rs_41285286	11 SubmittersRCV000194438 RCV000364705 RCV000512960 RCV001083810 RCV004530129
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)	SNV Germline	Chr6:129312965	Conflicting classifications of pathogenicity	not specified Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA207038	rs_371376404	4 SubmittersRCV000193502 RCV000670884 RCV001504467 RCV004530130
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)	SNV Germline	Chr6:129383183	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Condition: not provided LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA205986	rs_143333246	4 SubmittersRCV000192867 RCV000875855 RCV003129798 RCV004530131
NM_000426.4(LAMA2):c.5670G>T (p.Val1890=)	SNV Germline	Chr6:129402431	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy See cases	Criteria Provided Conflicting Classifications	CA207394	rs_374587087	3 SubmittersRCV000193715 RCV001412571 RCV002252046
NM_000426.4(LAMA2):c.523G>T (p.Glu175Ter)	SNV Germline	Chr6:129098299	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA351346	rs_863224891	1 SubmittersRCV000806245
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)	SNV Germline	Chr6:129440858	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy not specified Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA3994114	rs_144155507	11 SubmittersRCV000224036 RCV000341200 RCV000535681 RCV000522850 RCV005589793 RCV005625461
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)	SNV Germline	Chr6:129148991	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency not specified LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992479	rs_146462599	10 SubmittersRCV000224668 RCV000340277 RCV000498838 RCV000529189
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:129165672	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA10581431	rs_773209126	9 SubmittersRCV000224579 RCV000531230 RCV000670070 RCV004799201
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)	SNV Germline	Chr6:129098187	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992334	rs_149347601	8 SubmittersRCV000244548 RCV000279526 RCV000712186 RCV001080784
NM_000426.4(LAMA2):c.1782+14T>C	SNV Germline	Chr6:129192867	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992730	rs_191215452	5 SubmittersRCV000242661 RCV001152470 RCV002055039 RCV001705334
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=)	SNV Germline	Chr6:129270677	Conflicting classifications of pathogenicity	not specified Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA10586924	rs_150046431	3 SubmittersRCV000243192 RCV002472981 RCV002519880
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)	SNV Germline	Chr6:129288045	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993035	rs_142671449	6 SubmittersRCV000253127 RCV000355209 RCV000726006 RCV001086525
NM_000426.4(LAMA2):c.2749+24C>A	SNV Germline	Chr6:129288082	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10586925	rs_886038292	2 SubmittersRCV000243515 RCV003133198
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=)	SNV Germline	Chr6:129315517	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3993313	rs_199904029	4 SubmittersRCV000251418 RCV000877822 RCV001156481 RCV001697622
NM_000426.4(LAMA2):c.6706A>C (p.Arg2236=)	SNV Germline	Chr6:129454287	Conflicting classifications of pathogenicity	not specified Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA10586927	rs_886038293	3 SubmittersRCV000248642 RCV004591105 RCV005090257
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=)	SNV Germline	Chr6:129505238	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994870	rs_142451929	6 SubmittersRCV000252053 RCV000383105 RCV000712198 RCV001084286
NM_000426.4(LAMA2):c.8989-12C>G	SNV Germline	Chr6:129514361	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3995006	rs_144860334	5 SubmittersRCV000248588 RCV000406237 RCV000669466 RCV001429545 RCV002225537
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)	SNV Germline	Chr6:129393184	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10588407	rs_746201268	5 SubmittersRCV000255424 RCV000684848 RCV003463718 RCV005031839
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	SNV Germline	Chr6:129401254	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Inborn genetic diseases Muscular dystrophy, limb-girdle, autosomal recessive 23 Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993894	rs_747349942	13 SubmittersRCV000255824 RCV000548471 RCV000666714 RCV002521854 RCV003229588 RCV005044514
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)	SNV Germline	Chr6:129505317	Likely pathogenic	Merosin deficient congenital muscular dystrophy Abnormality of the musculature	Criteria Provided Single Submitter	CA10588944	rs_886039896	2 SubmittersRCV000256378 RCV001814136
NM_000426.4(LAMA2):c.396+1G>T	SNV Germline	Chr6:129059897	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA3992309	rs_770617208	7 SubmittersRCV000316746 RCV000553357 RCV000725186 RCV003152703
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)	SNV Germline	Chr6:129516318	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3995105	rs_200796753	7 SubmittersRCV000725292 RCV001085018 RCV001155234
NM_000426.4(LAMA2):c.6444G>A (p.Val2148=)	SNV Germline	Chr6:129453002	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994275	rs_781231694	2 SubmittersRCV000299455 RCV001458456
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)	SNV Germline	Chr6:129316161	Pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993416	rs_756854513	11 SubmittersRCV000399363 RCV000725563 RCV001390276 RCV005031859
NM_000426.4(LAMA2):c.6426T>C (p.Asn2142=)	SNV Germline	Chr6:129445818	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994253	rs_150730793	3 SubmittersRCV000303022 RCV001088715
NM_000426.4(LAMA2):c.5518G>A (p.Asp1840Asn)	SNV Germline	Chr6:129401296	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993902	rs_759350875	4 SubmittersRCV000300413 RCV000556228 RCV002519170
NM_000426.4(LAMA2):c.7439+1G>A	SNV Germline	Chr6:129473353	Pathogenic	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10605757	rs_886043630	2 SubmittersRCV000292245 RCV003574726
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)	SNV Germline	Chr6:129144078	Pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10605782	rs_886043648	3 SubmittersRCV000326246 RCV000726019 RCV005090373
NM_000426.4(LAMA2):c.7155+1G>A	SNV Germline	Chr6:129464453	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10605831	rs_886043692	4 SubmittersRCV000367418 RCV001859670
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	SNV Germline	Chr6:129391535	Pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993781	rs_758775001	9 SubmittersRCV000763554 RCV000726090 RCV003388578 RCV000328095 RCV000530826
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=)	SNV Germline	Chr6:129445737	Conflicting classifications of pathogenicity	Condition: not provided not specified LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994246	rs_200364660	3 SubmittersRCV000726398 RCV000330626 RCV001086978
NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter)	SNV Germline	Chr6:129270653	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10606627	rs_886044330	1 SubmittersRCV000335134
NM_000426.4(LAMA2):c.8211A>C (p.Pro2737=)	SNV Germline	Chr6:129492450	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994761	rs_369596190	2 SubmittersRCV000283444 RCV001503690
NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter)	SNV Germline	Chr6:129402366	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10606868	rs_746762473	1 SubmittersRCV000306212
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)	SNV Germline	Chr6:129297842	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3993129	rs_139244736	6 SubmittersRCV000387835 RCV000542768 RCV004021311 RCV004537616
NM_000426.4(LAMA2):c.237G>A (p.Arg79=)	SNV Germline	Chr6:129050042	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992250	rs_201402165	2 SubmittersRCV000292575 RCV000955640
NM_000426.4(LAMA2):c.819+7T>C	SNV Germline	Chr6:129144087	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA10621357	rs_886061044	2 SubmittersRCV000304070 RCV005090581
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)	SNV Germline	Chr6:129177772	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992592	rs_140604077	6 SubmittersRCV000270098 RCV000658392 RCV000546108 RCV002487557
NM_000426.4(LAMA2):c.1467+12A>G	SNV Germline	Chr6:129177878	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992611	rs_200224891	2 SubmittersRCV000370441 RCV002061304
NM_000426.4(LAMA2):c.2149A>G (p.Ile717Val)	SNV Germline	Chr6:129260763	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992839	rs_369049149	3 SubmittersRCV000345645 RCV000654739 RCV003129845
NM_000426.4(LAMA2):c.2857-13C>T	SNV Germline	Chr6:129297672	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency not specified LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993091	rs_201188972	3 SubmittersRCV000361101 RCV000606650 RCV002061305
NM_000426.4(LAMA2):c.3555+10G>A	SNV Germline	Chr6:129314808	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993283	rs_767221324	2 SubmittersRCV000289257 RCV002061306
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)	SNV Germline	Chr6:129383155	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided not specified Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993749	rs_373997222	6 SubmittersRCV000654755 RCV000364458 RCV002461105 RCV003401370 RCV005398485
NM_000426.4(LAMA2):c.5360G>C (p.Trp1787Ser)	SNV Germline	Chr6:129393170	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993854	rs_747621078	3 SubmittersRCV000294738 RCV002061307 RCV005589828
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)	SNV Germline	Chr6:129401336	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3993913	rs_141911213	6 SubmittersRCV000554917 RCV001508563 RCV000372398 RCV004544662
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys)	SNV Germline	Chr6:129440936	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994133	rs_117884199	3 SubmittersRCV000363181 RCV000654772 RCV004544663
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu)	SNV Germline	Chr6:129481330	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy not specified Condition: not provided LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994629	rs_115488979	5 SubmittersRCV000398215 RCV000529804 RCV005431640 RCV001718763 RCV004530429
NM_000426.4(LAMA2):c.8464T>C (p.Leu2822=)	SNV Germline	Chr6:129503197	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994838	rs_199570699	2 SubmittersRCV000264416 RCV001410804
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)	SNV Germline	Chr6:129507513	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994908	rs_141479751	7 SubmittersRCV000381871 RCV000593173 RCV001081806 RCV004530430
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=)	SNV Germline	Chr6:129314672	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993261	rs_200646230	3 SubmittersRCV000382301 RCV000945351 RCV001705521
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=)	SNV Germline	Chr6:129369975	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993724	rs_111632017	4 SubmittersRCV000361333 RCV004544661 RCV000871234 RCV006443131
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)	SNV Germline	Chr6:129464354	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Primary dilated cardiomyopathy Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994427	rs_145885540	11 SubmittersRCV000284205 RCV000536495 RCV000712196 RCV000764631 RCV001293062 RCV003992282
NM_000426.4(LAMA2):c.30T>G (p.Leu10=)	SNV Germline	Chr6:128883275	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10625731	rs_886061038	3 SubmittersRCV000272619 RCV001477773 RCV003133243
NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile)	SNV Germline	Chr6:129154562	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Inborn genetic diseases Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3992519	rs_182958473	3 SubmittersRCV000394746 RCV003352846 RCV004771472
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=)	SNV Germline	Chr6:129401247	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency not specified Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993891	rs_753886576	4 SubmittersRCV000281305 RCV000595086 RCV000726898 RCV001079286
NM_000426.4(LAMA2):c.6438A>G (p.Val2146=)	SNV Germline	Chr6:129452996	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994273	rs_755485519	2 SubmittersRCV000262751 RCV000942762
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)	SNV Germline	Chr6:129507621	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy not specified Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994926	rs_370843758	5 SubmittersRCV000294689 RCV000673324 RCV000691737 RCV002229896 RCV002487559
NM_000426.4(LAMA2):c.1506C>A (p.Ser502=)	SNV Germline	Chr6:129190243	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA10625842	rs_560445624	2 SubmittersRCV000331653 RCV003766043
NM_000426.4(LAMA2):c.1716G>C (p.Ala572=)	SNV Germline	Chr6:129192787	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992708	rs_758682648	2 SubmittersRCV000342971 RCV001448458
NM_000426.4(LAMA2):c.2323-7T>G	SNV Germline	Chr6:129270617	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA10625850	rs_762740616	2 SubmittersRCV000396657 RCV003736745
NM_000426.4(LAMA2):c.3666C>A (p.Asp1222Glu)	SNV Germline	Chr6:129315586	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993326	rs_373992160	2 SubmittersRCV000292683 RCV002523542
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)	SNV Germline	Chr6:129328306	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3993481	rs_144830879	5 SubmittersRCV000397163 RCV000695834 RCV000764626 RCV002520403 RCV003133244
NM_000426.4(LAMA2):c.4959+6G>T	SNV Germline	Chr6:129369996	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3993728	rs_148060790	8 SubmittersRCV000727346 RCV001086908 RCV000321483
NM_000426.4(LAMA2):c.6429+10T>G	SNV Germline	Chr6:129445831	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994255	rs_770063449	3 SubmittersRCV000373822 RCV000909660 RCV004530427
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)	SNV Germline	Chr6:129456459	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Inborn genetic diseases Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994372	rs_146854942	11 SubmittersRCV000376263 RCV000700908 RCV001266074 RCV002487558 RCV000726647
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=)	SNV Germline	Chr6:129473257	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994521	rs_199931560	3 SubmittersRCV000346252 RCV000950286 RCV001086145
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=)	SNV Germline	Chr6:129478720	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency not specified LAMA2-related disorder LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994583	rs_368989339	4 SubmittersRCV000345453 RCV000616343 RCV004530428 RCV001407826
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)	SNV Germline	Chr6:129492462	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency not specified LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994763	rs_150596964	9 SubmittersRCV000379832 RCV000499554 RCV000525663 RCV001531021
NM_000426.4(LAMA2):c.9240C>A (p.Thr3080=)	SNV Germline	Chr6:129516218	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3995080	rs_759819184	2 SubmittersRCV000337508 RCV000897780
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)	SNV Germline	Chr6:129312930	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Intellectual disability Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993219	rs_146490004	7 SubmittersRCV000413698 RCV000557605 RCV000764623 RCV001252052 RCV001508557 RCV002523936
NM_000426.4(LAMA2):c.3555+1G>A	SNV Germline	Chr6:129314799	Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16042627	rs_1057518119	3 SubmittersRCV000413320 RCV003766151 RCV005033942
NM_000426.4(LAMA2):c.8245-2A>G	SNV Germline	Chr6:129502657	Pathogenic/Likely pathogenic	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16042658	rs_914395925	4 SubmittersRCV000414051 RCV000779488 RCV003574768 RCV003463817
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)	SNV Germline	Chr6:129401308	Conflicting classifications of pathogenicity	Condition: not provided not specified LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3993905	rs_56173620	6 SubmittersRCV000415922 RCV000493358 RCV001080471 RCV001152793 RCV004544728
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)	SNV Germline	Chr6:128883319	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Inborn genetic diseases LAMA2-related disorder not specified	Criteria Provided Conflicting Classifications	CA3992202	rs_145310035	9 SubmittersRCV000514861 RCV001083278 RCV001156178 RCV004022339 RCV004532993 RCV005407097
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)	SNV Germline	Chr6:129250143	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Condition: not provided LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3992752	rs_112388307	8 SubmittersRCV000426949 RCV000874720 RCV001288666 RCV004532988
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His)	SNV Germline	Chr6:129464355	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994428	rs_548483084	4 SubmittersRCV000551529 RCV001698140 RCV003372705
NM_000426.4(LAMA2):c.2856+13G>A	SNV Germline	Chr6:129291733	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993077	rs_149487202	3 SubmittersRCV000434197 RCV001152569 RCV002059815
NM_000426.4(LAMA2):c.4436+5G>T	SNV Germline	Chr6:129342472	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA16605021	rs_1057524616	2 SubmittersRCV000424965 RCV002525511
NM_000426.4(LAMA2):c.283+1G>A	SNV Germline	Chr6:129050089	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA3992263	rs_200288072	7 SubmittersRCV000444644 RCV000529392 RCV000665566 RCV005044638
NM_000426.4(LAMA2):c.4176+9C>T	SNV Germline	Chr6:129320664	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3993459	rs_117116822	5 SubmittersRCV000434004 RCV000654754 RCV001158144 RCV004539880 RCV006443428
NM_000426.4(LAMA2):c.4436+6A>G	SNV Germline	Chr6:129342473	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA16605450	rs_1057523624	2 SubmittersRCV000421008 RCV006462801
NM_000426.4(LAMA2):c.1499G>A (p.Cys500Tyr)	SNV Germline	Chr6:129190236	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16618239	rs_1064794941	1 SubmittersRCV000484636
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)	SNV Germline	Chr6:129349384	Pathogenic/Likely pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA3993578	rs_770084568	4 SubmittersRCV000483171 RCV000984190 RCV001389983 RCV005034021
NM_000426.4(LAMA2):c.5866-1G>A	SNV Germline	Chr6:129427751	Pathogenic/Likely pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA16618242	rs_1064797040	6 SubmittersRCV000479998 RCV000674058 RCV001851279 RCV001823143
NM_000426.4(LAMA2):c.6708-3A>C	SNV Germline	Chr6:129456332	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994352	rs_112637707	8 SubmittersRCV000481995 RCV001087476 RCV001154185 RCV004541528
NM_000426.4(LAMA2):c.8452C>G (p.Leu2818Val)	SNV Germline	Chr6:129503185	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA16618243	rs_1064795750	2 SubmittersRCV000480247 RCV005252915
NM_000426.4(LAMA2):c.8918C>T (p.Thr2973Met)	SNV Germline	Chr6:129512423	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994969	rs_145842163	6 SubmittersRCV000729717 RCV000802778 RCV001356828
NM_000426.4(LAMA2):c.1027+1G>A	SNV Germline	Chr6:129149097	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16621846	rs_1064797327	1 SubmittersRCV000488063
NM_000426.4(LAMA2):c.8076-7C>G	SNV Germline	Chr6:129492308	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA146918203	rs_555377928	2 SubmittersRCV000489494 RCV002056812
NM_000426.4(LAMA2):c.4717+1G>T	SNV Germline	Chr6:129353358	Pathogenic/Likely pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365618953	rs_1131691660	5 SubmittersRCV000494223 RCV000664588 RCV000654738
NM_000426.4(LAMA2):c.9001G>C (p.Val3001Leu)	SNV Germline	Chr6:129514385	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3995011	rs_189360899	6 SubmittersRCV000493864 RCV000526476 RCV001151354
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)	SNV Germline	Chr6:129393101	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993839	rs_141950826	6 SubmittersRCV000712189 RCV000689906 RCV003302734
NM_000426.4(LAMA2):c.6047T>C (p.Leu2016Ser)	SNV Germline	Chr6:129438724	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994082	rs_773309064	5 SubmittersRCV000497656 RCV001361569 RCV002524079
NM_000426.4(LAMA2):c.6605G>T (p.Gly2202Val)	SNV Germline	Chr6:129454186	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA365616947	rs_1554299897	1 SubmittersRCV000497707
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)	SNV Germline	Chr6:129464371	Pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3994436	rs_762806915	7 SubmittersRCV000498487 RCV000665940 RCV000763555 RCV000815600
NM_000426.4(LAMA2):c.7112T>G (p.Phe2371Cys)	SNV Germline	Chr6:129464409	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994441	rs_201274841	3 SubmittersRCV000497710 RCV000699578 RCV003352895
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)	SNV Germline	Chr6:129507627	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy Primary dilated cardiomyopathy not specified	Criteria Provided Conflicting Classifications	CA3994930	rs_143638361	7 SubmittersRCV000723578 RCV000764636 RCV001086813 RCV001293224 RCV006458429
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)	SNV Germline	Chr6:129267114	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided Gastric cancer	Criteria Provided Conflicting Classifications	CA3992869	rs_192317605	7 SubmittersRCV000501465 RCV000535129 RCV000665212 RCV001153747 RCV001270112 RCV001507679 RCV005899878
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)	SNV Germline	Chr6:129464385	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994438	rs_371403343	6 SubmittersRCV000500474 RCV000557131 RCV000764632 RCV001509285 RCV004541559
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)	SNV Germline	Chr6:129503257	Conflicting classifications of pathogenicity	not specified Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994847	rs_140178576	5 SubmittersRCV000503356 RCV000764635 RCV001240299 RCV003133284
NM_000426.4(LAMA2):c.9254G>A (p.Arg3085Gln)	SNV Germline	Chr6:129516232	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3995085	rs_776606476	6 SubmittersRCV000501974 RCV000824214 RCV001155233 RCV003133283 RCV004023380
NM_000426.4(LAMA2):c.7452-1G>A	SNV Germline	Chr6:129478692	Pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365626127	rs_1554304931	1 SubmittersRCV000500923
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)	SNV Germline	Chr6:129440959	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3994141	rs_142264176	4 SubmittersRCV000509339 RCV000527643 RCV001821424 RCV003133294
NM_000426.4(LAMA2):c.4960-17C>A	SNV Germline	Chr6:129383105	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA451934336	rs_758048596	8 SubmittersRCV000513320 RCV001857325 RCV003470642 RCV005044762
NM_000426.4(LAMA2):c.8988+15T>C	SNV Germline	Chr6:129512508	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994991	rs_201041465	5 SubmittersRCV000514828 RCV001151353 RCV002060197
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe)	SNV Germline	Chr6:129098264	Conflicting classifications of pathogenicity	not specified Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3992348	rs_201175472	6 SubmittersRCV000517812 RCV001591167 RCV001851444 RCV006362403
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)	SNV Germline	Chr6:129177799	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3992597	rs_138162760	6 SubmittersRCV000518091 RCV000560647 RCV001333431 RCV001507676 RCV002525050
NM_000426.4(LAMA2):c.1873A>G (p.Ile625Val)	SNV Germline	Chr6:129250202	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992762	rs_141658354	6 SubmittersRCV000516242 RCV000686319 RCV001796091
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)	SNV Germline	Chr6:129280087	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3992959	rs_759973830	6 SubmittersRCV000518412 RCV000815597 RCV000764622
NM_000426.4(LAMA2):c.3924+2T>C	SNV Germline	Chr6:129315952	Pathogenic	Congenital muscular dystrophy due to partial LAMA2 deficiency Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, congenital, merosin deficient or partially deficient	Criteria Provided Multiple Submitters No Conflicts	CA365613577	rs_1554269966	8 SubmittersRCV000015363 RCV000985057 RCV000518321 RCV001857909 RCV000853232 RCV004527387
NM_000426.4(LAMA2):c.5234+1G>A	SNV Germline	Chr6:129391654	Pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Inborn genetic diseases Abnormality of the musculature Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA3993804	rs_781376927	8 SubmittersRCV000516970 RCV000987774 RCV001068964 RCV001267180 RCV001814178 RCV005044769
NM_000426.4(LAMA2):c.5689G>A (p.Ala1897Thr)	SNV Germline	Chr6:129402450	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3993954	rs_200518204	5 SubmittersRCV000518765 RCV000654769 RCV001154065 RCV001508564
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)	SNV Germline	Chr6:129492013	Conflicting classifications of pathogenicity	not specified Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3994717	rs_780695627	5 SubmittersRCV000517410 RCV000764634 RCV000823641 RCV001154297 RCV003133298
NM_000426.4(LAMA2):c.8147G>A (p.Arg2716His)	SNV Germline	Chr6:129492386	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3994750	rs_142781107	6 SubmittersRCV000518446 RCV000689949 RCV002527492 RCV003129880
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)	SNV Germline	Chr6:129149015	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3992484	rs_141340479	6 SubmittersRCV000520035 RCV000764621 RCV001086334 RCV001153657
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)	SNV Germline	Chr6:129192728	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365608189	rs_1303773212	4 SubmittersRCV000523102 RCV000709844 RCV003470661
NM_000426.4(LAMA2):c.2767G>A (p.Gly923Ser)	SNV Germline	Chr6:129291631	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA3993064	rs_144492513	3 SubmittersRCV000519809 RCV000702908 RCV006458461
NM_000426.4(LAMA2):c.2932G>A (p.Asp978Asn)	SNV Germline	Chr6:129297760	Conflicting classifications of pathogenicity	Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993112	rs_202050052	5 SubmittersRCV000523512 RCV001152570 RCV002060278
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly)	SNV Germline	Chr6:129300852	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3993180	rs_149165006	4 SubmittersRCV000522346 RCV000689663 RCV004541633
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)	SNV Germline	Chr6:129349332	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA3993565	rs_375640462	6 SubmittersRCV000520057 RCV000714624 RCV000714625 RCV001821455
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)	SNV Germline	Chr6:129146967	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA146884965	rs_1028599119	3 SubmittersRCV000553778 RCV003470798 RCV005398868
NM_000426.4(LAMA2):c.1467+1G>A	SNV Germline	Chr6:129177867	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA365607742	rs_1554234161	2 SubmittersRCV000544760 RCV001783062
NM_000426.4(LAMA2):c.1467+1G>T	SNV Germline	Chr6:129177867	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365607744	rs_1554234161	1 SubmittersRCV000559292
NM_000426.4(LAMA2):c.2039A>G (p.Asn680Ser)	SNV Germline	Chr6:129252238	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3992804	rs_774139365	3 SubmittersRCV000546757 RCV002527940 RCV005869614
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)	SNV Germline	Chr6:129267137	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3992875	rs_139843107	4 SubmittersRCV000528186 RCV002483505 RCV003139866 RCV005659937
NM_000426.4(LAMA2):c.2288C>T (p.Ala763Val)	SNV Germline	Chr6:129267185	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3992880	rs_141521127	5 SubmittersRCV000533655 RCV000657928 RCV001156365
NM_000426.4(LAMA2):c.2361A>C (p.Lys787Asn)	SNV Germline	Chr6:129270662	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3992917	rs_549956055	4 SubmittersRCV000527809 RCV003126820 RCV004024400
NM_000426.4(LAMA2):c.3628A>G (p.Ile1210Val)	SNV Germline	Chr6:129315548	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993321	rs_147291222	5 SubmittersRCV000538799 RCV001508558 RCV004024401
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)	SNV Germline	Chr6:129316123	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3993409	rs_139739075	10 SubmittersRCV000541809 RCV000664838 RCV001158142 RCV001508559 RCV002483507
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys)	SNV Germline	Chr6:129369940	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993714	rs_138303386	7 SubmittersRCV000524771 RCV000712188 RCV001153956 RCV002526746
NM_000426.4(LAMA2):c.8890G>T (p.Val2964Leu)	SNV Germline	Chr6:129512395	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3994959	rs_202159946	3 SubmittersRCV000527451 RCV001151351 RCV005398869
NM_000426.4(LAMA2):c.819+2T>C	SNV Germline	Chr6:129144082	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365606255	rs_1554226188	1 SubmittersRCV000551647
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)	SNV Germline	Chr6:129291700	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA146895738	rs_375638381	2 SubmittersRCV000544291 RCV003470795
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter)	SNV Germline	Chr6:129315855	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365613369	rs_1554269891	3 SubmittersRCV000528418 RCV002508785 RCV005034126
NM_000426.4(LAMA2):c.4786A>G (p.Ile1596Val)	SNV Germline	Chr6:129366287	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3993668	rs_774875437	3 SubmittersRCV000525965 RCV003159942 RCV005632501
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)	SNV Germline	Chr6:129401287	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3993899	rs_749423866	4 SubmittersRCV000541554 RCV001334438 RCV003133367 RCV004543248
NM_000426.4(LAMA2):c.8547+1G>T	SNV Germline	Chr6:129503281	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365634512	rs_1554315373	1 SubmittersRCV000543273
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)	SNV Germline	Chr6:129098318	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided	Criteria Provided Conflicting Classifications	CA3992360	rs_143664472	4 SubmittersRCV000537196 RCV001810461 RCV003133365
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)	SNV Germline	Chr6:129165669	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365607367	rs_1374568851	6 SubmittersRCV000553179 RCV000984281 RCV004721444 RCV005034125
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)	SNV Germline	Chr6:129192721	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA3992685	rs_899353	7 SubmittersRCV000712181 RCV001083246 RCV001157938 RCV001333433 RCV006458622
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=)	SNV Germline	Chr6:129328412	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA146890401	rs_1047569721	2 SubmittersRCV000544823
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)	SNV Germline	Chr6:129369907	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993707	rs_369776766	5 SubmittersRCV000536256 RCV002227483 RCV003470796
NM_000426.4(LAMA2):c.5143G>A (p.Glu1715Lys)	SNV Germline	Chr6:129391562	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993787	rs_539321303	2 SubmittersRCV000556848 RCV003133363
NM_000426.4(LAMA2):c.6268+2T>C	SNV Germline	Chr6:129441000	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA365629811	rs_1554297727	2 SubmittersRCV000548839 RCV004984981
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn)	SNV Germline	Chr6:129507546	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided LAMA2-related disorder not specified	Criteria Provided Conflicting Classifications	CA3994916	rs_139159258	4 SubmittersRCV000560653 RCV003133369 RCV004543250 RCV005407743
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)	SNV Germline	Chr6:128883247	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA147234456	rs_374403765	7 SubmittersRCV000532735 RCV000672881 RCV001090685 RCV005357620
NM_000426.4(LAMA2):c.5072-10C>A	SNV Germline	Chr6:129391481	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related disorder Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA3993772	rs_552989582	5 SubmittersRCV000539249 RCV001154810 RCV001558576 RCV004543247 RCV005898456
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)	SNV Germline	Chr6:129393215	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases Condition: not provided Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA3993865	rs_141235562	6 SubmittersRCV000527012 RCV000764629 RCV002526747 RCV003133364 RCV005898457
NM_000426.4(LAMA2):c.5470G>A (p.Gly1824Ser)	SNV Germline	Chr6:129401248	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993892	rs_370150883	2 SubmittersRCV000526524 RCV003133366
NM_000426.4(LAMA2):c.5866-2A>G	SNV Germline	Chr6:129427750	Pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365623861	rs_1554295204	2 SubmittersRCV000542890 RCV000668522
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=)	SNV Germline	Chr6:129445671	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related disorder not specified	Criteria Provided Conflicting Classifications	CA3994234	rs_141190803	7 SubmittersRCV000530314 RCV001156580 RCV001697318 RCV004543249 RCV006264083
NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=)	SNV Germline	Chr6:129491967	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3994707	rs_141101234	5 SubmittersRCV000596361 RCV001087120 RCV001151228
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser)	SNV Germline	Chr6:129512425	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994972	rs_140202046	6 SubmittersRCV000537632 RCV000730617 RCV001291750 RCV001291824 RCV002527941
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter)	SNV Germline	Chr6:129312923	Pathogenic	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365611766	rs_1554268940	2 SubmittersRCV000591735 RCV003767347
NM_000426.4(LAMA2):c.8467C>T (p.Pro2823Ser)	SNV Germline	Chr6:129503200	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994839	rs_151334775	5 SubmittersRCV000596219 RCV000794411
NM_000426.4(LAMA2):c.4166T>C (p.Leu1389Pro)	SNV Germline	Chr6:129320645	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993457	rs_752934825	6 SubmittersRCV000594239 RCV000694386 RCV002532447
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter)	SNV Germline	Chr6:129492394	Pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365631453	rs_1289855948	2 SubmittersRCV000591127 RCV000984279
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser)	SNV Germline	Chr6:129192716	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992684	rs_139070796	5 SubmittersRCV000594834 RCV001064111
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp)	SNV Germline	Chr6:129393127	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993845	rs_138695453	3 SubmittersRCV000614320 RCV001860336 RCV003139929
NM_000426.4(LAMA2):c.3582T>C (p.Ile1194=)	SNV Germline	Chr6:129315502	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993307	rs_137962409	4 SubmittersRCV000873560 RCV001085327
NM_000426.4(LAMA2):c.2450+16A>G	SNV Germline	Chr6:129270767	Conflicting classifications of pathogenicity	not specified Myalgia Elevated circulating creatine kinase concentration Exercise-induced myalgia LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA146880637	rs_1024374408	3 SubmittersRCV000607151 RCV000626686 RCV002529411
NM_000426.4(LAMA2):c.9212-11G>A	SNV Germline	Chr6:129516179	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3995074	rs_770088527	3 SubmittersRCV001154397 RCV001707798 RCV002064151
NM_000426.4(LAMA2):c.6350A>G (p.Lys2117Arg)	SNV Germline	Chr6:129445742	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994248	rs_750866614	2 SubmittersRCV000654759 RCV004985053
NM_000426.4(LAMA2):c.8244T>C (p.His2748=)	SNV Germline	Chr6:129492483	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994769	rs_981372351	2 SubmittersRCV000654780 RCV004025935
NM_000426.4(LAMA2):c.437C>G (p.Ser146Cys)	SNV Germline	Chr6:129098213	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided not specified Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992339	rs_143680577	6 SubmittersRCV000654711 RCV001572301 RCV004586852 RCV005392247
NM_000426.4(LAMA2):c.5060G>A (p.Arg1687Gln)	SNV Germline	Chr6:129383222	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993759	rs_767209477	3 SubmittersRCV000654741 RCV003133472 RCV005589874
NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=)	SNV Germline	Chr6:129502712	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3994790	rs_145295628	3 SubmittersRCV000654765 RCV001154300 RCV003424259
NM_000426.4(LAMA2):c.8388A>C (p.Glu2796Asp)	SNV Germline	Chr6:129503121	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3994825	rs_184127828	4 SubmittersRCV000654725 RCV001155132 RCV003133470 RCV005034225
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile)	SNV Germline	Chr6:129315888	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993373	rs_758134778	3 SubmittersRCV000654730 RCV000764625 RCV004025934
NM_000426.4(LAMA2):c.7604G>A (p.Gly2535Asp)	SNV Germline	Chr6:129481294	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994617	rs_374210667	3 SubmittersRCV000654736 RCV003129975 RCV004985052
NM_000426.4(LAMA2):c.8977A>G (p.Ile2993Val)	SNV Germline	Chr6:129512482	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3994985	rs_145331792	5 SubmittersRCV000654719 RCV002534211 RCV003133469 RCV005407847
NM_000426.4(LAMA2):c.1027+1G>T	SNV Germline	Chr6:129149097	Pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365606742	rs_1064797327	2 SubmittersRCV000654747 RCV000671034
NM_000426.4(LAMA2):c.3736-2A>T	SNV Germline	Chr6:129315760	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3993353	rs_372715292	4 SubmittersRCV000654722 RCV000668700 RCV001556699
NM_000426.4(LAMA2):c.7780C>T (p.Arg2594Cys)	SNV Germline	Chr6:129486504	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994665	rs_546988105	4 SubmittersRCV000654723 RCV001509288
NM_000426.4(LAMA2):c.6992+5G>A	SNV Germline	Chr6:129460329	Conflicting classifications of pathogenicity	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related disorder Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA570054380	rs_1221715098	5 SubmittersRCV000657979 RCV000673048 RCV004527719 RCV004813130 RCV005091890
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)	SNV Germline	Chr6:129059863	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3992299	rs_535635043	5 SubmittersRCV000666830 RCV000817157 RCV001784240
NM_000426.4(LAMA2):c.1307-1G>A	SNV Unknown	Chr6:129177705	Likely pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365607386	rs_1554234051	2 SubmittersRCV000674135
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)	SNV Germline	Chr6:129267127	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3992871	rs_775676341	4 SubmittersRCV000669872 RCV000691208 RCV005034254
NM_000426.4(LAMA2):c.2749+1G>A	SNV Germline	Chr6:129288059	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993040	rs_759555791	4 SubmittersRCV000667925 RCV001390274 RCV001810470
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)	SNV Germline	Chr6:129312969	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA3993224	rs_376088608	2 SubmittersRCV000671981 RCV001240118
NM_000426.4(LAMA2):c.3736-2A>G	SNV Unknown	Chr6:129315760	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365613158	rs_372715292	1 SubmittersRCV000672465
NM_000426.4(LAMA2):c.4176+1G>A	SNV Germline	Chr6:129320656	Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16609646	rs_1404492484	3 SubmittersRCV000668352 RCV001855496
NM_000426.4(LAMA2):c.4524-2A>T	SNV Germline	Chr6:129353162	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365617690	rs_1554278541	4 SubmittersRCV000671265
NM_000426.4(LAMA2):c.6573+1G>A	SNV Germline	Chr6:129453132	Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA3994297	rs_757435241	4 SubmittersRCV000666889 RCV001219998 RCV005046864 RCV005901452
NM_000426.4(LAMA2):c.6573+1G>T	SNV Unknown	Chr6:129453132	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365616801	rs_757435241	1 SubmittersRCV000674576
NM_000426.4(LAMA2):c.7572+1G>A	SNV Unknown	Chr6:129478814	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365627064	rs_1554305006	1 SubmittersRCV000666862
NM_000426.4(LAMA2):c.8244+1G>A	SNV Germline	Chr6:129492484	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA3994771	rs_749522728	9 SubmittersRCV000665939 RCV000809347 RCV000763557 RCV001597197 RCV005901445
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter)	SNV Unknown	Chr6:129516273	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA3995094	rs_749797580	1 SubmittersRCV000669044
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)	SNV Germline	Chr6:128883306	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365828264	rs_886061039	2 SubmittersRCV000673285 RCV002531335
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)	SNV Germline	Chr6:128883351	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365828360	rs_1360796756	2 SubmittersRCV000667526 RCV003736880
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)	SNV Germline	Chr6:129059829	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365828870	rs_1441933780	4 SubmittersRCV000673459 RCV000792306 RCV001784283 RCV005034271
NM_000426.4(LAMA2):c.1306+2T>G	SNV Germline	Chr6:129165677	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365607381	rs_1326401124	3 SubmittersRCV000664685 RCV005034232
NM_000426.4(LAMA2):c.1467+2T>C	SNV Germline	Chr6:129177868	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365607746	rs_1554234163	3 SubmittersRCV000669991 RCV000824157 RCV000991376
NM_000426.4(LAMA2):c.2096+1G>A	SNV Unknown	Chr6:129252296	Likely pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365610648	rs_1554256965	2 SubmittersRCV000666723
NM_000426.4(LAMA2):c.2323-1G>A	SNV Germline	Chr6:129270623	Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365608973	rs_1278823424	2 SubmittersRCV000668996 RCV003736881
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)	SNV Germline	Chr6:129050088	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided LAMA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA147269490	rs_1018100729	5 SubmittersRCV000673365 RCV001208127 RCV001784282 RCV004723056
NM_000426.4(LAMA2):c.640-1G>A	SNV Unknown	Chr6:129143900	Pathogenic	Merosin deficient congenital muscular dystrophy Congenital Muscular Dystrophy, LAMA2-related	Criteria Provided Single Submitter	CA365605864	rs_1296761337	2 SubmittersRCV000673568 RCV001796177
NM_000426.4(LAMA2):c.819+1G>A	SNV Unknown	Chr6:129144081	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365606250	rs_1554226186	1 SubmittersRCV000672488
NM_000426.4(LAMA2):c.4717+1G>C	SNV Germline	Chr6:129353358	Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365618952	rs_1131691660	3 SubmittersRCV000670226 RCV002531246 RCV005034256
NM_000426.4(LAMA2):c.2451-2A>G	SNV Germline	Chr6:129280059	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA3992954	rs_993196576	6 SubmittersRCV000665168 RCV001216650 RCV001091208 RCV002477479
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)	SNV Germline	Chr6:129300783	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993164	rs_145420388	7 SubmittersRCV000666604 RCV000685584 RCV001726299 RCV005034243
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)	SNV Germline	Chr6:129328299	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3993478	rs_775112258	7 SubmittersRCV000673723 RCV000687779 RCV001784287
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)	SNV Germline	Chr6:129353280	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Intellectual disability	Criteria Provided Conflicting Classifications	CA3993615	rs_778106503	4 SubmittersRCV000667215 RCV000764627 RCV002532062 RCV005626144
NM_000426.4(LAMA2):c.5562+1G>A	SNV Germline	Chr6:129401341	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3993915	rs_376014152	6 SubmittersRCV000668720 RCV001037130 RCV003144472 RCV003388592
NM_000426.4(LAMA2):c.5865+2T>G	SNV Unknown	Chr6:129403961	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365617573	rs_1554290316	1 SubmittersRCV000671972
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter)	SNV Unknown	Chr6:129475394	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365625039	rs_1554303937	1 SubmittersRCV000674687
NM_000426.4(LAMA2):c.6429+1G>C	SNV Unknown	Chr6:129445822	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365632408	rs_1262029350	1 SubmittersRCV000670249
NM_000426.4(LAMA2):c.8076-1G>A	SNV Germline	Chr6:129492314	Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365631258	rs_1554310169	3 SubmittersRCV000671554 RCV001855562
NM_000426.4(LAMA2):c.8548-2A>G	SNV Unknown	Chr6:129505198	Likely pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA146924629	rs_369224209	2 SubmittersRCV000673268
NM_000426.4(LAMA2):c.8858-1G>A	SNV Germline	Chr6:129512362	Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365635987	rs_1554319117	3 SubmittersRCV000674842 RCV003768015 RCV005034280
NM_000426.4(LAMA2):c.9211+1G>A	SNV Germline	Chr6:129514596	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365637169	rs_1554320318	2 SubmittersRCV000674405 RCV003574803
NM_000426.4(LAMA2):c.9212-2A>G	SNV Unknown	Chr6:129516188	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA365637175	rs_1554321125	1 SubmittersRCV000668325
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)	SNV Germline	Chr6:129098274	Pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3992352	rs_553221833	4 SubmittersRCV000666062 RCV000760397 RCV001855451
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)	SNV Germline	Chr6:129260790	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA146877952	rs_920771326	5 SubmittersRCV000669645 RCV001241324 RCV003133496 RCV003330885
NM_000426.4(LAMA2):c.2322+1G>C	SNV Germline	Chr6:129267220	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA146879481	rs_945091158	4 SubmittersRCV000669605 RCV000817774 RCV001784259 RCV005034253
NM_000426.4(LAMA2):c.3556-13T>A	SNV Germline	Chr6:129315463	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3993301	rs_775278003	5 SubmittersRCV000671390 RCV001378737 RCV005034262 RCV005054240
NM_000426.4(LAMA2):c.4436+1G>C	SNV Unknown	Chr6:129342468	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA3993539	rs_376430565	1 SubmittersRCV000672011
NM_000426.4(LAMA2):c.6429+1G>T	SNV Germline	Chr6:129445822	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365632411	rs_1262029350	6 SubmittersRCV001041706 RCV001784278 RCV001810478 RCV003465520
NM_000426.4(LAMA2):c.6993-2A>C	SNV Germline	Chr6:129464288	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3994416	rs_200669208	4 SubmittersRCV000666010 RCV001037634 RCV005034239 RCV006260966
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val)	SNV Germline	Chr6:129481320	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994624	rs_147430700	3 SubmittersRCV000678266 RCV001038706 RCV004985064
NM_000426.4(LAMA2):c.533C>T (p.Thr178Met)	SNV Germline	Chr6:129098309	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992359	rs_148665727	4 SubmittersRCV000686051 RCV001560969
NM_000426.4(LAMA2):c.4960-2A>G	SNV Germline	Chr6:129383120	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365628486	rs_1562512707	1 SubmittersRCV000684847
NM_000426.4(LAMA2):c.1028-1G>A	SNV Germline	Chr6:129154504	Likely pathogenic	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365606750	rs_1562281922	2 SubmittersRCV000685188 RCV005034289
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys)	SNV Germline	Chr6:129353339	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993634	rs_371388948	4 SubmittersRCV000697970 RCV001555511 RCV001333438 RCV002533504
NM_000426.4(LAMA2):c.6692G>A (p.Arg2231His)	SNV Germline	Chr6:129454273	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3994331	rs_142536231	3 SubmittersRCV000690990 RCV001152903 RCV005632631
NM_000426.4(LAMA2):c.7567C>G (p.Leu2523Val)	SNV Germline	Chr6:129478808	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994599	rs_746077104	2 SubmittersRCV000685108 RCV006367229
NM_000426.4(LAMA2):c.8547+2T>C	SNV Germline	Chr6:129503282	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365634514	rs_1450790879	1 SubmittersRCV000700827
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)	SNV Germline	Chr6:129512410	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Primary dilated cardiomyopathy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994961	rs_374888837	7 SubmittersRCV000686730 RCV001151352 RCV001293225 RCV002462020 RCV002493149 RCV002544760
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)	SNV Germline	Chr6:129514545	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA3995048	rs_151049890	5 SubmittersRCV000703407 RCV000764637 RCV000998685 RCV001252046
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val)	SNV Germline	Chr6:129049954	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3992234	rs_191899712	5 SubmittersRCV000691120 RCV000754732 RCV001766480 RCV004586879
NM_000426.4(LAMA2):c.7899-1G>A	SNV Germline	Chr6:129491900	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365630350	rs_1562614305	1 SubmittersRCV000699972
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)	SNV Germline	Chr6:129143989	Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365606049	rs_1562273395	2 SubmittersRCV000709617 RCV003465646
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter)	SNV Germline	Chr6:129059891	Pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365829009	rs_1562200866	2 SubmittersRCV000709619 RCV001861944
NM_000426.4(LAMA2):c.8075+1G>A	SNV Unknown	Chr6:129492078	Likely pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA146918022	rs_1055407857	1 SubmittersRCV000754731
NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter)	SNV Germline	Chr6:129316115	Pathogenic	Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365613754	rs_1562451730	7 SubmittersRCV000760889 RCV001224973 RCV004737998 RCV004569427 RCV005047018
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)	SNV Germline	Chr6:129316068	Pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365613657	rs_1180309541	5 SubmittersRCV000798368 RCV000761500
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)	SNV Germline	Chr6:129154561	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3992518	rs_191912891	4 SubmittersRCV001263913 RCV004771485 RCV005407953
NM_000426.4(LAMA2):c.3412-2A>C	SNV Germline	Chr6:129314653	Likely pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365612164	rs_1562449164	1 SubmittersRCV000785954
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)	SNV Germline	Chr6:129098185	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided	Criteria Provided Conflicting Classifications	CA3992332	rs_368349321	5 SubmittersRCV000796526 RCV001152374 RCV000844997 RCV002495049 RCV003133612
NM_000426.4(LAMA2):c.415G>A (p.Val139Met)	SNV Germline	Chr6:129098191	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992335	rs_372414339	2 SubmittersRCV000811892 RCV003130064
NM_000426.4(LAMA2):c.831G>A (p.Ser277=)	SNV Germline	Chr6:129146970	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3992447	rs_765960304	2 SubmittersRCV000812693 RCV001153656
NM_000426.4(LAMA2):c.1291A>T (p.Lys431Ter)	SNV Germline	Chr6:129165660	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA365607347	rs_1583169165	2 SubmittersRCV000802606 RCV003489890
NM_000426.4(LAMA2):c.1369G>A (p.Ala457Thr)	SNV Germline	Chr6:129177768	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3992591	rs_542498391	3 SubmittersRCV000812320 RCV001816884 RCV004028767
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)	SNV Germline	Chr6:129190232	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided not specified Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3992636	rs_143626559	8 SubmittersRCV000795194 RCV001332433 RCV001558111 RCV002234253 RCV002493454 RCV004027517
NM_000426.4(LAMA2):c.2153C>A (p.Ala718Glu)	SNV Germline	Chr6:129260767	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992841	rs_373673505	2 SubmittersRCV000809620 RCV003132070
NM_000426.4(LAMA2):c.2513G>A (p.Gly838Glu)	SNV Germline	Chr6:129280123	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA3992969	rs_779877337	2 SubmittersRCV000817671 RCV006459947
NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter)	SNV Germline	Chr6:129287869	Pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365609745	rs_1583421520	2 SubmittersRCV000819043 RCV005860157
NM_000426.4(LAMA2):c.2670A>C (p.Lys890Asn)	SNV Germline	Chr6:129287979	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993025	rs_201625640	3 SubmittersRCV000793875 RCV003133602 RCV002535897
NM_000426.4(LAMA2):c.3363G>T (p.Glu1121Asp)	SNV Germline	Chr6:129313049	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3993237	rs_770971338	4 SubmittersRCV000817449 RCV004800604 RCV005633746
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)	SNV Germline	Chr6:129320554	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided	Criteria Provided Conflicting Classifications	CA3993443	rs_749372185	3 SubmittersRCV000823492 RCV002478931 RCV003130078
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr)	SNV Germline	Chr6:129349317	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993562	rs_372576669	4 SubmittersRCV000811965 RCV001731940 RCV003130065 RCV005367582
NM_000426.4(LAMA2):c.4484C>T (p.Thr1495Met)	SNV Germline	Chr6:129349345	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993570	rs_147987573	2 SubmittersRCV000810045 RCV005652453
NM_000426.4(LAMA2):c.4675G>A (p.Gly1559Ser)	SNV Germline	Chr6:129353315	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3993627	rs_377630412	5 SubmittersRCV000821206 RCV001152679 RCV001508561
NM_000426.4(LAMA2):c.6094G>A (p.Ala2032Thr)	SNV Germline	Chr6:129440824	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994109	rs_776279074	2 SubmittersRCV000812648 RCV003132079
NM_000426.4(LAMA2):c.6207C>A (p.Tyr2069Ter)	SNV Germline	Chr6:129440937	Pathogenic	LAMA2-related muscular dystrophy Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA146917143	rs_143343647	4 SubmittersRCV000819633 RCV001784449 RCV005036212
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)	SNV Germline	Chr6:129454271	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365617315	rs_1583790201	2 SubmittersRCV000808345 RCV001264222
NM_000426.4(LAMA2):c.6883C>T (p.Arg2295Cys)	SNV Germline	Chr6:129460215	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994389	rs_773802779	2 SubmittersRCV000797530 RCV003133616
NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His)	SNV Germline	Chr6:129460216	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3994390	rs_142164767	6 SubmittersRCV000819344 RCV001154186 RCV001593014 RCV005407992
NM_000426.4(LAMA2):c.7075C>T (p.Pro2359Ser)	SNV Germline	Chr6:129464372	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994437	rs_535022442	4 SubmittersRCV000792290 RCV002261205 RCV004027413
NM_000426.4(LAMA2):c.7207G>A (p.Asp2403Asn)	SNV Germline	Chr6:129465196	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994484	rs_141476898	4 SubmittersRCV000797503 RCV003130046 RCV006367337
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser)	SNV Germline	Chr6:129481371	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Inborn genetic diseases Condition: not provided not specified Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3994636	rs_200341138	7 SubmittersRCV000824335 RCV001156680 RCV002538198 RCV003132111 RCV003323737 RCV005392460
NM_000426.4(LAMA2):c.7781G>A (p.Arg2594His)	SNV Germline	Chr6:129486505	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994666	rs_368311592	2 SubmittersRCV000813643 RCV003130068
NM_000426.4(LAMA2):c.3038-7G>A	SNV Germline	Chr6:129300729	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA3993155	rs_767841898	3 SubmittersRCV000797341 RCV005047069
NM_000426.4(LAMA2):c.6708-8C>G	SNV Germline	Chr6:129456327	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA915943632	rs_1562581016	2 SubmittersRCV000821441 RCV001766739
NM_000426.4(LAMA2):c.7750-2A>G	SNV Germline	Chr6:129486472	Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA3994662	rs_778539477	2 SubmittersRCV000850248 RCV003461293
NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter)	SNV Unknown	Chr6:129165657	Pathogenic	Hypotonia Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365607339	rs_1583169151	2 SubmittersRCV000850320 RCV004569797
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=)	SNV Germline	Chr6:129192826	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA451935111	rs_1012171328	2 SubmittersRCV001333434 RCV001408159
NM_000426.4(LAMA2):c.2427T>C (p.Cys809=)	SNV Germline	Chr6:129270728	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3992927	rs_778050587	2 SubmittersRCV000875862 RCV001156368
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)	SNV Germline	Chr6:129297832	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3993126	rs_200953311	7 SubmittersRCV000876327 RCV001081881 RCV001152571 RCV004530846
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)	SNV Germline	Chr6:129320636	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency not specified	Criteria Provided Conflicting Classifications	CA3993455	rs_560139751	3 SubmittersRCV000872529 RCV001158143 RCV001844243
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=)	SNV Germline	Chr6:129366250	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993659	rs_754850670	3 SubmittersRCV001152680 RCV001491830 RCV003432849
NM_000426.4(LAMA2):c.5531G>A (p.Arg1844His)	SNV Germline	Chr6:129401309	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993906	rs_150691000	3 SubmittersRCV000873582 RCV001545026
NM_000426.4(LAMA2):c.6506A>G (p.Asn2169Ser)	SNV Germline	Chr6:129453064	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994285	rs_144845618	5 SubmittersRCV000875808 RCV001086147
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=)	SNV Germline	Chr6:129453125	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3994296	rs_748650667	3 SubmittersRCV000875641 RCV001091211 RCV001152898
NM_000426.4(LAMA2):c.7118C>T (p.Ser2373Leu)	SNV Germline	Chr6:129464415	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994444	rs_758887080	4 SubmittersRCV000878744 RCV001081161 RCV002539271
NM_000426.4(LAMA2):c.8684C>G (p.Thr2895Ser)	SNV Germline	Chr6:129505336	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994891	rs_200705442	4 SubmittersRCV000873824 RCV001156797 RCV002261234 RCV003243359
NM_000426.4(LAMA2):c.9060G>A (p.Leu3020=)	SNV Germline	Chr6:129514444	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3995027	rs_368896579	2 SubmittersRCV000873642 RCV001289024
NM_000426.4(LAMA2):c.3153C>T (p.His1051=)	SNV Germline	Chr6:129300851	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993179	rs_765377074	2 SubmittersRCV000952618 RCV003489980
NM_000426.4(LAMA2):c.4462G>A (p.Gly1488Arg)	SNV Germline	Chr6:129349323	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993563	rs_200961385	3 SubmittersRCV000945558 RCV002293496
NM_000426.4(LAMA2):c.4772A>G (p.Gln1591Arg)	SNV Germline	Chr6:129366273	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA3993666	rs_143986011	2 SubmittersRCV000952099 RCV001153955
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)	SNV Germline	Chr6:129486593	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994680	rs_140658201	5 SubmittersRCV000951724 RCV001151226 RCV001585881 RCV004533654
NM_000426.4(LAMA2):c.4301C>T (p.Ser1434Leu)	SNV Germline	Chr6:129328402	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993500	rs_368379507	3 SubmittersRCV000960753 RCV001085031
NM_000426.4(LAMA2):c.7153C>T (p.Leu2385=)	SNV Germline	Chr6:129464450	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA451926038	rs_1281520681	2 SubmittersRCV000973879 RCV001154188
NM_000426.4(LAMA2):c.8763T>C (p.Asp2921=)	SNV Germline	Chr6:129507548	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA146925636	rs_956998936	2 SubmittersRCV000944392 RCV001436394
NM_000426.4(LAMA2):c.909+7A>G	SNV Germline	Chr6:129147055	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA915943625	rs_1583133494	2 SubmittersRCV000935997 RCV005870979
NM_000426.4(LAMA2):c.4436+8T>C	SNV Germline	Chr6:129342475	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3993540	rs_192650285	3 SubmittersRCV000951028 RCV001158147 RCV001288667
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg)	SNV Germline	Chr6:129312921	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365611762	rs_1583469739	3 SubmittersRCV000987769 RCV001858676
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)	SNV Unknown	Chr6:129369967	Pathogenic	Merosin deficient congenital muscular dystrophy	Criteria Provided Single Submitter	CA365624545	rs_748541803	1 SubmittersRCV000987773
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)	SNV Germline	Chr6:129440926	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365629422	rs_1583756552	2 SubmittersRCV000987775 RCV003736951
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys)	SNV Germline	Chr6:129270626	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992913	rs_139351727	3 SubmittersRCV000992261 RCV001205656
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter)	SNV Germline	Chr6:129300870	Likely pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365611604	rs_1583447808	2 SubmittersRCV000998683 RCV001263637
NM_000426.4(LAMA2):c.7024C>T (p.Gln2342Ter)	SNV Germline	Chr6:129464321	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA365620036	rs_1583813573	1 SubmittersRCV001008706
NM_000426.4(LAMA2):c.902C>T (p.Ala301Val)	SNV Germline	Chr6:129147041	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3992456	rs_144053918	4 SubmittersRCV001068322 RCV003130147 RCV004738153
NM_000426.4(LAMA2):c.2009G>A (p.Arg670His)	SNV Germline	Chr6:129252208	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992799	rs_149305108	4 SubmittersRCV001056882 RCV001507678
NM_000426.4(LAMA2):c.3079A>G (p.Thr1027Ala)	SNV Germline	Chr6:129300777	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993162	rs_750128766	2 SubmittersRCV001048403 RCV004986761
NM_000426.4(LAMA2):c.5059C>T (p.Arg1687Trp)	SNV Germline	Chr6:129383221	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993758	rs_754518146	2 SubmittersRCV001058668 RCV003130137
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)	SNV Germline	Chr6:129454180	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3994316	rs_779326725	6 SubmittersRCV001063289 RCV001810493 RCV001352917 RCV001553634 RCV001815467
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)	SNV Germline	Chr6:129464337	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Primary dilated cardiomyopathy Condition: not provided Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994424	rs_529981007	5 SubmittersRCV001042574 RCV001293066 RCV001726422 RCV004720290
NM_000426.4(LAMA2):c.7044T>G (p.Tyr2348Ter)	SNV Germline	Chr6:129464341	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA146891295	rs_866663584	1 SubmittersRCV001041823
NM_000426.4(LAMA2):c.7073A>G (p.Tyr2358Cys)	SNV Germline	Chr6:129464370	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994435	rs_773157433	2 SubmittersRCV001065325 RCV001509284
NM_000426.4(LAMA2):c.7537G>A (p.Asp2513Asn)	SNV Germline	Chr6:129478778	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994596	rs_749794799	3 SubmittersRCV001055043 RCV003130132 RCV006367603
NM_000426.4(LAMA2):c.8575G>A (p.Gly2859Arg)	SNV Germline	Chr6:129505227	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994869	rs_755908120	2 SubmittersRCV001069315 RCV005367710
NM_000426.4(LAMA2):c.9008A>G (p.Asn3003Ser)	SNV Germline	Chr6:129514392	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3995013	rs_747619612	2 SubmittersRCV001050685 RCV002553230
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)	SNV Germline	Chr6:129514398	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3995015	rs_75048006	5 SubmittersRCV001055472 RCV001806002 RCV002482001
NM_000426.4(LAMA2):c.1027+3A>G	SNV Germline	Chr6:129149099	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992495	rs_772796883	2 SubmittersRCV001061757 RCV002225789
NM_000426.4(LAMA2):c.112+2T>C	SNV Germline	Chr6:128883359	Pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365828379	rs_1211322465	2 SubmittersRCV001053761 RCV005866772
NM_000426.4(LAMA2):c.4312-1G>C	SNV Germline	Chr6:129342342	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365615057	rs_1776314873	1 SubmittersRCV001042960
NM_000426.4(LAMA2):c.5968+1G>A	SNV Germline	Chr6:129427855	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365624087	rs_1207051921	1 SubmittersRCV001053928
NM_000426.4(LAMA2):c.13G>T (p.Ala5Ser)	SNV Germline	Chr6:128883258	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3992191	rs_367622987	4 SubmittersRCV001090686 RCV002554817 RCV005660038
NM_000426.4(LAMA2):c.112+1G>C	SNV Germline	Chr6:128883358	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA365828375	rs_398123367	1 SubmittersRCV001090687
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter)	SNV Germline	Chr6:129505341	Pathogenic	Condition: not provided Abnormality of the musculature LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365635035	rs_750328754	3 SubmittersRCV001091212 RCV001814272 RCV002554828
NM_000426.4(LAMA2):c.519C>T (p.Asp173=)	SNV Germline	Chr6:129098295	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA451959447	rs_1256347636	2 SubmittersRCV001152375 RCV001461816
NM_000426.4(LAMA2):c.718T>C (p.Tyr240His)	SNV Germline	Chr6:129143979	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3992410	rs_3778142	4 SubmittersRCV001152379 RCV001245455 RCV006372161 RCV006455466
NM_000426.4(LAMA2):c.1615G>C (p.Asp539His)	SNV Germline	Chr6:129192686	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992678	rs_764236220	2 SubmittersRCV001157935 RCV002558389
NM_000426.4(LAMA2):c.3203T>C (p.Leu1068Ser)	SNV Germline	Chr6:129312889	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993208	rs_752736343	4 SubmittersRCV001152572 RCV001245805 RCV003480974 RCV004032803
NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg)	SNV Germline	Chr6:129353232	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993605	rs_760292213	3 SubmittersRCV001152677 RCV002264204 RCV002559473
NM_000426.4(LAMA2):c.5461G>A (p.Val1821Ile)	SNV Germline	Chr6:129401239	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993889	rs_201172088	3 SubmittersRCV001158269 RCV002557353 RCV005359883
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=)	SNV Germline	Chr6:129401331	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993911	rs_781341719	3 SubmittersRCV001152795 RCV001437305 RCV002264205
NM_000426.4(LAMA2):c.6598C>T (p.Arg2200Cys)	SNV Germline	Chr6:129454179	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994315	rs_568648664	5 SubmittersRCV001152899 RCV002298876 RCV002557293
NM_000426.4(LAMA2):c.6635C>G (p.Ser2212Cys)	SNV Germline	Chr6:129454216	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994320	rs_746883617	3 SubmittersRCV001152901 RCV003574848 RCV003130168
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)	SNV Germline	Chr6:129465220	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994489	rs_199814707	6 SubmittersRCV001155018 RCV001242334 RCV001509286 RCV001329267
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala)	SNV Germline	Chr6:129491987	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided LAMA2-related muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA3994714	rs_138732723	7 SubmittersRCV001154296 RCV001509289 RCV002558336 RCV004526085
NM_000426.4(LAMA2):c.8205C>T (p.Pro2735=)	SNV Germline	Chr6:129492444	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994759	rs_559453268	2 SubmittersRCV001154298 RCV001486306
NM_000426.4(LAMA2):c.8419C>G (p.Arg2807Gly)	SNV Germline	Chr6:129503152	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994831	rs_754671210	3 SubmittersRCV001155133 RCV002559491 RCV003246733
NM_000426.4(LAMA2):c.8760C>T (p.Ala2920=)	SNV Germline	Chr6:129507545	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994915	rs_781063563	2 SubmittersRCV001156799 RCV001453946
NM_000426.4(LAMA2):c.9171A>C (p.Ser3057=)	SNV Germline	Chr6:129514555	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA451936321	rs_1293824666	2 SubmittersRCV001154394 RCV001447446
NM_000426.4(LAMA2):c.6269-12A>C	SNV Germline	Chr6:129443051	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994194	rs_749837829	2 SubmittersRCV001156579 RCV002070927
NM_000426.4(LAMA2):c.7898+12A>G	SNV Germline	Chr6:129486634	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3994684	rs_572960610	3 SubmittersRCV001151227 RCV002557260 RCV002505728
NM_000426.4(LAMA2):c.8547+14G>A	SNV Germline	Chr6:129503294	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994850	rs_755995964	2 SubmittersRCV001155135 RCV003737005
NM_000426.4(LAMA2):c.6671T>C (p.Ile2224Thr)	SNV Germline	Chr6:129454252	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994327	rs_775847695	2 SubmittersRCV001172177 RCV001873589
NM_000426.4(LAMA2):c.3806C>T (p.Thr1269Ile)	SNV Germline	Chr6:129315832	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993367	rs_375051351	2 SubmittersRCV001219321 RCV002562995
NM_000426.4(LAMA2):c.3928G>T (p.Glu1310Ter)	SNV Germline	Chr6:129316041	Pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365613593	rs_755643402	3 SubmittersRCV001219254 RCV004570502
NM_000426.4(LAMA2):c.4685A>G (p.His1562Arg)	SNV Germline	Chr6:129353325	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993628	rs_767903280	4 SubmittersRCV001222691 RCV003163723 RCV003353219
NM_000426.4(LAMA2):c.5512A>G (p.Ile1838Val)	SNV Germline	Chr6:129401290	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993900	rs_771138153	2 SubmittersRCV001214591 RCV005589985
NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter)	SNV Germline	Chr6:129427796	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365623955	rs_1781395670	2 SubmittersRCV001214977 RCV005036477
NM_000426.4(LAMA2):c.327G>A (p.Trp109Ter)	SNV Germline	Chr6:129059827	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365828864	rs_1788769048	1 SubmittersRCV001206890
NM_000426.4(LAMA2):c.1535G>A (p.Trp512Ter)	SNV Germline	Chr6:129190272	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365607910	rs_1781452558	1 SubmittersRCV001208411
NM_000426.4(LAMA2):c.2586T>A (p.Cys862Ter)	SNV Germline	Chr6:129287895	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365609792	rs_1789390592	1 SubmittersRCV001207012
NM_000426.4(LAMA2):c.5296G>T (p.Glu1766Ter)	SNV Germline	Chr6:129393106	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365614684	rs_1231277831	1 SubmittersRCV001201838
NM_000426.4(LAMA2):c.5968G>T (p.Glu1990Ter)	SNV Germline	Chr6:129427854	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365624084	rs_1376412082	1 SubmittersRCV001214183
NM_000426.4(LAMA2):c.2323-1G>T	SNV Germline	Chr6:129270623	Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365608975	rs_1278823424	2 SubmittersRCV001223090 RCV003469386
NM_000426.4(LAMA2):c.5445+1G>A	SNV Germline	Chr6:129393256	Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365615019	rs_1779423047	2 SubmittersRCV001222492 RCV003469383
NM_000426.4(LAMA2):c.5969-1G>C	SNV Germline	Chr6:129438645	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365627418	rs_1781951075	1 SubmittersRCV001224840
NM_000426.4(LAMA2):c.1326T>G (p.Cys442Trp)	SNV Germline	Chr6:129177725	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365607425	rs_1226441435	1 SubmittersRCV001236837
NM_000426.4(LAMA2):c.5960A>C (p.Asp1987Ala)	SNV Germline	Chr6:129427846	Conflicting classifications of pathogenicity	Inborn genetic diseases LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994039	rs_775912205	2 SubmittersRCV004639513 RCV001232230
NM_000426.4(LAMA2):c.2132A>G (p.Tyr711Cys)	SNV Germline	Chr6:129260746	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992838	rs_201122410	4 SubmittersRCV001246076 RCV002261325
NM_000426.4(LAMA2):c.3616A>G (p.Thr1206Ala)	SNV Germline	Chr6:129315536	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3993319	rs_190362395	3 SubmittersRCV001242640 RCV002568554 RCV006279495
NM_000426.4(LAMA2):c.4495C>T (p.Arg1499Trp)	SNV Germline	Chr6:129349356	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy LAMA2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3993574	rs_564113854	3 SubmittersRCV001239248 RCV004538497 RCV005633983
NM_000426.4(LAMA2):c.4696C>T (p.Arg1566Cys)	SNV Germline	Chr6:129353336	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3993632	rs_777964192	2 SubmittersRCV001243114 RCV003132338
NM_000426.4(LAMA2):c.4768G>A (p.Glu1590Lys)	SNV Germline	Chr6:129366269	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993664	rs_143206604	4 SubmittersRCV001243185 RCV003130222 RCV004034742
NM_000426.4(LAMA2):c.5377G>A (p.Ala1793Thr)	SNV Germline	Chr6:129393187	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Rare genetic intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993858	rs_370181941	3 SubmittersRCV001245522 RCV001257032 RCV004629519
NM_000426.4(LAMA2):c.6647G>A (p.Arg2216His)	SNV Germline	Chr6:129454228	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3994321	rs_371191809	4 SubmittersRCV001238985 RCV003130212 RCV002563932 RCV005236715
NM_000426.4(LAMA2):c.8918C>A (p.Thr2973Lys)	SNV Germline	Chr6:129512423	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994968	rs_145842163	3 SubmittersRCV001248412 RCV001509291
NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val)	SNV Germline	Chr6:129516240	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3995088	rs_768834542	5 SubmittersRCV001243710 RCV002564072 RCV003130223
NM_000426.4(LAMA2):c.820-1G>A	SNV Germline	Chr6:129146958	Likely pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365606260	rs_1370654793	2 SubmittersRCV003469444 RCV001237683
NM_000426.4(LAMA2):c.6086-2A>C	SNV Germline	Chr6:129440814	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365628743	rs_759055212	1 SubmittersRCV001235926
NM_000426.4(LAMA2):c.6268+1G>T	SNV Germline	Chr6:129440999	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365629807	rs_1782086875	1 SubmittersRCV001229482
NM_000426.4(LAMA2):c.7440-1G>A	SNV Germline	Chr6:129475389	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365624984	rs_1244029486	1 SubmittersRCV001226470
NM_000426.4(LAMA2):c.8703+2T>G	SNV Germline	Chr6:129505357	Likely pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Single Submitter	CA365635086	rs_1785975460	1 SubmittersRCV001232322
NM_000426.4(LAMA2):c.5562+5G>A	SNV Germline	Chr6:129401345	Pathogenic	LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA1139659331	rs_771046502	2 SubmittersRCV001243340
NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val)	SNV Germline	Chr6:129288044	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993034	rs_376580266	2 SubmittersRCV001293114 RCV002568758
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter)	SNV Unknown	Chr6:129049995	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365828548	rs_1231305572	1 SubmittersRCV001263618
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter)	SNV Unknown	Chr6:129050003	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA147269459	rs_1042843028	1 SubmittersRCV001263619
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter)	SNV Unknown	Chr6:129098200	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365829099	rs_1775300950	1 SubmittersRCV001263620
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)	SNV Germline	Chr6:129098280	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA147280362	rs_1008335405	2 SubmittersRCV001263621 RCV001390189
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter)	SNV Unknown	Chr6:129098345	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365829397	rs_1775311864	1 SubmittersRCV001263622
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter)	SNV Unknown	Chr6:129098378	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365829473	rs_1775313883	1 SubmittersRCV001263906
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter)	SNV Unknown	Chr6:129098413	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365829554	rs_1775315900	1 SubmittersRCV001263907
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter)	SNV Unknown	Chr6:129143952	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365605978	rs_1778273068	1 SubmittersRCV001263908
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter)	SNV Unknown	Chr6:129144042	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365606167	rs_781316719	1 SubmittersRCV001263909
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter)	SNV Unknown	Chr6:129144051	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365606188	rs_1778283565	1 SubmittersRCV001263910
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter)	SNV Unknown	Chr6:129154528	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365606806	rs_1778991422	1 SubmittersRCV001263911
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter)	SNV Unknown	Chr6:129154542	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365606841	rs_1436470033	1 SubmittersRCV001263912
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter)	SNV Unknown	Chr6:129165647	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365607315	rs_1779703136	1 SubmittersRCV001264073
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter)	SNV Unknown	Chr6:129177863	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365607734	rs_1780700010	1 SubmittersRCV001264074
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter)	SNV Unknown	Chr6:129190297	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365607970	rs_1781455687	1 SubmittersRCV001264075
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter)	SNV Unknown	Chr6:129192683	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365608095	rs_1781592001	1 SubmittersRCV001264076
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter)	SNV Unknown	Chr6:129192823	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365608389	rs_1781606569	1 SubmittersRCV001264077
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter)	SNV Unknown	Chr6:129250160	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365609563	rs_1786068382	1 SubmittersRCV001264078
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter)	SNV Unknown	Chr6:129250163	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365609571	rs_1786068836	1 SubmittersRCV001264079
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter)	SNV Unknown	Chr6:129252141	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365610295	rs_1786301728	1 SubmittersRCV001264080
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter)	SNV Unknown	Chr6:129252243	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365610527	rs_1786309995	1 SubmittersRCV001264199
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter)	SNV Unknown	Chr6:129260730	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365608511	rs_1787059737	1 SubmittersRCV001264200
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter)	SNV Unknown	Chr6:129270629	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365608989	rs_1787862380	1 SubmittersRCV001264201
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter)	SNV Unknown	Chr6:129287866	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365609737	rs_1789386860	1 SubmittersRCV001264202
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter)	SNV Unknown	Chr6:129287896	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365609795	rs_897845923	1 SubmittersRCV001264203
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)	SNV Germline	Chr6:129287967	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA365609957	rs_1789395190	3 SubmittersRCV001264204 RCV001880076 RCV005634009
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter)	SNV Unknown	Chr6:129288012	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365610062	rs_1789398455	1 SubmittersRCV001264205
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter)	SNV Unknown	Chr6:129288019	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365610097	rs_1789399141	1 SubmittersRCV001264206
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter)	SNV Unknown	Chr6:129288028	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365610143	rs_1789399872	1 SubmittersRCV001263631
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter)	SNV Unknown	Chr6:129297778	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365611103	rs_1773282962	1 SubmittersRCV001263632
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter)	SNV Unknown	Chr6:129297785	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365611121	rs_1773283278	1 SubmittersRCV001263633
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter)	SNV Unknown	Chr6:129297796	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365611149	rs_1187391940	1 SubmittersRCV001263634
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter)	SNV Unknown	Chr6:129297847	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993131	rs_752094219	2 SubmittersRCV001263635 RCV003469490
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter)	SNV Unknown	Chr6:129300821	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365611496	rs_1773502803	1 SubmittersRCV001263636
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter)	SNV Unknown	Chr6:129312929	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365611779	rs_944013929	1 SubmittersRCV001263638
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter)	SNV Unknown	Chr6:129312956	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365611841	rs_1774323015	1 SubmittersRCV001263922
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter)	SNV Unknown	Chr6:129314687	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365612244	rs_1383756739	1 SubmittersRCV001263923
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter)	SNV Unknown	Chr6:129314697	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365612262	rs_1774465781	1 SubmittersRCV001263924
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter)	SNV Unknown	Chr6:129315624	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365613074	rs_1774541313	1 SubmittersRCV001263925
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter)	SNV Unknown	Chr6:129320619	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365612830	rs_1774908660	1 SubmittersRCV001263926
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter)	SNV Unknown	Chr6:129320625	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365612874	rs_1774908820	1 SubmittersRCV001263927
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter)	SNV Unknown	Chr6:129342409	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365615347	rs_1776319116	1 SubmittersRCV001263928
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter)	SNV Unknown	Chr6:129349320	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365617347	rs_1776730034	1 SubmittersRCV001263929
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter)	SNV Unknown	Chr6:129353201	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365618502	rs_1776953529	1 SubmittersRCV001264089
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter)	SNV Unknown	Chr6:129353213	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365618528	rs_1776953853	1 SubmittersRCV001264090
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter)	SNV Unknown	Chr6:129353241	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365618592	rs_917205971	1 SubmittersRCV001264091
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter)	SNV Unknown	Chr6:129366338	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365622955	rs_1247084547	1 SubmittersRCV001264092
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)	SNV Germline	Chr6:129366359	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993685	rs_762342110	2 SubmittersRCV001264093 RCV006466172
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter)	SNV Unknown	Chr6:129383155	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365628563	rs_373997222	1 SubmittersRCV001264094
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)	SNV Germline	Chr6:129383200	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365628738	rs_1778794887	2 SubmittersRCV001264095 RCV001880072
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter)	SNV Unknown	Chr6:129391511	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365613937	rs_1779318396	1 SubmittersRCV001264096
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter)	SNV Unknown	Chr6:129391574	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365614091	rs_1779323338	1 SubmittersRCV001264215
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter)	SNV Unknown	Chr6:129402339	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365616041	rs_1165626901	1 SubmittersRCV001264216
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter)	SNV Unknown	Chr6:129402435	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365616443	rs_1462522184	1 SubmittersRCV001264217
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter)	SNV Unknown	Chr6:129427830	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365624030	rs_1781398399	1 SubmittersRCV001264218
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter)	SNV Unknown	Chr6:129440992	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365629773	rs_1782086229	1 SubmittersRCV001264219
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)	SNV Germline	Chr6:129445697	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365631703	rs_1782333085	2 SubmittersRCV001264220 RCV003574869
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter)	SNV Unknown	Chr6:129453007	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365616397	rs_1782761474	1 SubmittersRCV001264221
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter)	SNV Unknown	Chr6:129465255	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365622099	rs_1783482812	1 SubmittersRCV001263647
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)	SNV Germline	Chr6:129465272	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3994494	rs_776104105	3 SubmittersRCV001263648 RCV001780214 RCV003462839
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter)	SNV Unknown	Chr6:129473252	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365624213	rs_1377818460	1 SubmittersRCV001263649
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter)	SNV Unknown	Chr6:129491914	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365630409	rs_1784882494	1 SubmittersRCV001263650
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter)	SNV Unknown	Chr6:129492010	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA365630809	rs_1784888496	1 SubmittersRCV001263651

NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)

SNV
Germline

Chr6:129315638

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy
Qualitative or quantitative defects of merosin

Criteria Provided
Multiple Submitters
No Conflicts

CA220762

rs_121913569

5 SubmittersRCV000015360 RCV000790720 RCV000818341 RCV003225924

NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)

SNV
Germline

Chr6:129516231

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA257204

rs_121913571

7 SubmittersRCV000015361 RCV000521505 RCV003574700 RCV005042055

NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)

SNV
Germline

Chr6:129481381

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA257207

rs_121913570

3 SubmittersRCV000015364 RCV003330391

NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)

SNV
Germline

Chr6:129481422

Pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Congenital Muscular Dystrophy, LAMA2-related
Muscular dystrophy, limb-girdle, autosomal recessive 23
Inborn genetic diseases
LAMA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220807

rs_121913572

16 SubmittersRCV000015366 RCV000763556 RCV001068136 RCV000790757 RCV001794447 RCV002288491 RCV002513061 RCV004532360

NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)

SNV
Germline

Chr6:129287893

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA123842

rs_121913573

6 SubmittersRCV000015367 RCV000287266 RCV001239611

NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)

SNV
Germline

Chr6:129190317

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA123845

rs_121913574

3 SubmittersRCV000015368 RCV000078747 RCV000822637

NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)

SNV
Germline

Chr6:129353285

Pathogenic

Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA123848

rs_121913575

6 SubmittersRCV000015369 RCV000674731 RCV001203616 RCV005357127

NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)

SNV
Germline

Chr6:129464444

Pathogenic

Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
LAMA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123851

rs_121913576

10 SubmittersRCV000015370 RCV000179066 RCV000654712 RCV000790693 RCV002476971 RCV002444431

NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)

SNV
Germline

Chr6:129297729

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341325

rs_121913577

6 SubmittersRCV000015371 RCV000824626 RCV001091209

NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)

SNV
Germline

Chr6:129486605

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342967

rs_202247792

6 SubmittersRCV000031900 RCV001352555 RCV003144116

NM_000426.4(LAMA2):c.112+1G>A

SNV
Germline

Chr6:128883358

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220740

rs_398123367

6 SubmittersRCV000790741 RCV001064438 RCV001810421 RCV003466973

NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)

SNV
Germline

Chr6:129192692

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
LAMA2-related disorder
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA220741

rs_141363186

13 SubmittersRCV000078748 RCV000710155 RCV001157936 RCV001081996 RCV004537311 RCV004984669 RCV005625272

NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)

SNV
Germline

Chr6:129192705

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Inborn genetic diseases
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA146102

rs_118083923

12 SubmittersRCV000078749 RCV000428463 RCV001081152 RCV001157937 RCV002514385 RCV004528282

NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)

SNV
Germline

Chr6:129049989

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220744

rs_398123368

4 SubmittersRCV000175608 RCV001232128 RCV002498383

NM_000426.4(LAMA2):c.2037G>C (p.Ala679=)

SNV
Germline

Chr6:129252236

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220747

rs_398123369

3 SubmittersRCV000078753 RCV000669485 RCV001403283

NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)

SNV
Germline

Chr6:129260729

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220751

rs_149753273

6 SubmittersRCV000078755 RCV000290735 RCV000723694 RCV001085842

NM_000426.4(LAMA2):c.2750-1G>C

SNV
Germline

Chr6:129291613

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220757

rs_9492297

2 SubmittersRCV000176037 RCV003574708

NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)

SNV
Germline

Chr6:129297790

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220758

rs_398123371

6 SubmittersRCV000176160 RCV000790837 RCV001854388

NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)

SNV
Germline

Chr6:129316089

Pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA220766

rs_398123373

11 SubmittersRCV000078767 RCV000176719 RCV000801722 RCV000763553 RCV003137619

NM_000426.4(LAMA2):c.4523+1G>A

SNV
Germline

Chr6:129349385

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220770

rs_398123375

3 SubmittersRCV000177512 RCV001203362

NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)

SNV
Germline

Chr6:129383212

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220771

rs_201632009

3 SubmittersRCV000177827 RCV000790793 RCV003736570

NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)

SNV
Germline

Chr6:129401308

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LAMA2-related muscular dystrophy
Polymicrogyria
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA146139

rs_56173620

12 SubmittersRCV000078779 RCV000224783 RCV000525182 RCV000656110 RCV001152792 RCV001258302

NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)

SNV
Germline

Chr6:129402394

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146142

rs_139586720

8 SubmittersRCV000078780 RCV000872576 RCV001152796 RCV001719818

NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)

SNV
Germline

Chr6:129427800

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA220776

rs_398123378

9 SubmittersRCV000178452 RCV000546384 RCV000790831 RCV002513825 RCV005042195

NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)

SNV
Germline

Chr6:129445714

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA220780

rs_139824017

7 SubmittersRCV000078787 RCV000665158 RCV002483133 RCV002513826 RCV004724798

NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser)

SNV
Germline

Chr6:129453109

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220783

rs_398123381

3 SubmittersRCV000078788 RCV000987776 RCV000805108

NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)

SNV
Germline

Chr6:129453121

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
not specified

Criteria Provided
Conflicting Classifications

CA220786

rs_372592018

9 SubmittersRCV000078789 RCV000315651 RCV000529233 RCV000664766 RCV002477224 RCV003987351

NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=)

SNV
Germline

Chr6:129456413

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220789

rs_398123382

4 SubmittersRCV000078790 RCV000667651 RCV001085072

NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)

SNV
Germline

Chr6:129460287

Pathogenic

Merosin deficient congenital muscular dystrophy
Elevated circulating creatine kinase concentration
Myalgia
Exercise-induced myalgia
Condition: not provided
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA220792

rs_398123383

10 SubmittersRCV000178685 RCV000626687 RCV000760398 RCV001202930 RCV005867854

NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)

SNV
Germline

Chr6:129464408

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
LAMA2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220795

rs_150644209

7 SubmittersRCV000723641 RCV001081479 RCV004537312 RCV004639138

NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)

SNV
Germline

Chr6:129473308

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220802

rs_140483001

7 SubmittersRCV000253133 RCV000404201 RCV000710156 RCV001084543

NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)

SNV
Germline

Chr6:129146969

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA220810

rs_398123388

9 SubmittersRCV000078803 RCV000669930 RCV000809231 RCV003387755 RCV005031564

NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)

SNV
Germline

Chr6:129505344

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220816

rs_200718262

3 SubmittersRCV000712199 RCV001082052

NM_000426.4(LAMA2):c.9212-1G>A

SNV
Germline

Chr6:129516189

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220820

rs_398123391

4 SubmittersRCV000179649 RCV001319032 RCV002513827 RCV005409616

NM_000426.4(LAMA2):c.255C>T (p.Ile85=)

SNV
Germline

Chr6:129050060

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA153433

rs_142083777

10 SubmittersRCV000117443 RCV000338272 RCV000723795 RCV001086565

NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)

SNV
Germline

Chr6:129453097

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA231226

rs_567385461

8 SubmittersRCV000117448 RCV000622662 RCV001079381 RCV004542844

NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)

SNV
Germline

Chr6:129098213

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA295383

rs_143680577

7 SubmittersRCV000505761 RCV000674785 RCV000802006 RCV005867935

NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu)

SNV
Germline

Chr6:129177790

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295389

rs_150394215

4 SubmittersRCV001040070 RCV001156262 RCV002505140 RCV003133149

NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)

SNV
Germline

Chr6:129280072

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Intellectual disability
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA295413

rs_117422805

13 SubmittersRCV000149994 RCV000723613 RCV000670870 RCV001084610 RCV001252050 RCV001156369 RCV005031655

NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)

SNV
Germline

Chr6:129314775

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Congenital muscular dystrophy due to partial LAMA2 deficiency
Muscular dystrophy, limb-girdle, autosomal recessive 23
Intellectual disability
LAMA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA295392

rs_34505698

13 SubmittersRCV000550298 RCV000712184 RCV000764624 RCV001156479 RCV001270116 RCV001252051 RCV004532672 RCV005237585

NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)

SNV
Germline

Chr6:129465239

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA295398

rs_147185142

9 SubmittersRCV000549623 RCV000665052 RCV000724876 RCV001155019 RCV002492550 RCV002516011

NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)

SNV
Germline

Chr6:129486612

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA295401

rs_727502851

5 SubmittersRCV000668682 RCV000824022 RCV001781490

NM_000426.4(LAMA2):c.8690G>A (p.Arg2897Gln)

SNV
Germline

Chr6:129505342

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA295407

rs_201696115

4 SubmittersRCV000149991 RCV000805156 RCV001156798

NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)

SNV
Germline

Chr6:129514529

Conflicting classifications of pathogenicity

not specified
Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA295410

rs_146525742

7 SubmittersRCV000227406 RCV000674500 RCV000767113 RCV000707347 RCV001154393

NM_000426.4(LAMA2):c.9211+6T>C

SNV
Germline

Chr6:129514601

Conflicting classifications of pathogenicity

not specified
Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Inborn genetic diseases
Familial cancer of breast
Ovarian cancer
Cervical cancer

Criteria Provided
Conflicting Classifications

CA246937

rs_201375881

15 SubmittersRCV000253869 RCV000515327 RCV000723450 RCV001084465 RCV001154395 RCV001810426 RCV002514873 RCV005888294 RCV005888296 RCV005888295

NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)

SNV
Germline

Chr6:129280086

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA180154

rs_118147866

11 SubmittersRCV000153434 RCV000224933 RCV000315412 RCV001082044

NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile)

SNV
Germline

Chr6:129454278

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA234205

rs_150945378

6 SubmittersRCV000723769 RCV001080713 RCV004737236

NM_000426.4(LAMA2):c.623C>A (p.Pro208His)

SNV
Germline

Chr6:129098399

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA234195

rs_183890063

6 SubmittersRCV000153431 RCV000623289 RCV001240997

NM_000426.4(LAMA2):c.2304C>T (p.Asp768=)

SNV
Germline

Chr6:129267201

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA234198

rs_142126511

4 SubmittersRCV000153433 RCV000723772 RCV001081776 RCV001156366

NM_000426.4(LAMA2):c.5688C>T (p.His1896=)

SNV
Germline

Chr6:129402449

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA208811

rs_573779258

6 SubmittersRCV000194567 RCV000394813 RCV000654781 RCV001083632

NM_000426.4(LAMA2):c.5563-2A>G

SNV
Germline

Chr6:129402322

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA274493

rs_786204779

1 SubmittersRCV000169663

NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)

SNV
Germline

Chr6:129280071

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA051537

rs_186538779

2 SubmittersRCV000664485 RCV001049286

NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)

SNV
Germline

Chr6:129502696

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA051962

rs_115650537

6 SubmittersRCV000591454 RCV001081139 RCV001154299 RCV004541463

NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)

SNV
Germline

Chr6:129342379

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA236268

rs_200923373

10 SubmittersRCV000171401 RCV000696321 RCV000665977 RCV001375997 RCV005031701

NM_000426.4(LAMA2):c.13G>A (p.Ala5Thr)

SNV
Germline

Chr6:128883258

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA238603

rs_367622987

3 SubmittersRCV000173131 RCV000818174

NM_000426.4(LAMA2):c.1782+10C>T

SNV
Germline

Chr6:129192863

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA239747

rs_200030296

6 SubmittersRCV000174246 RCV000379516 RCV001086461 RCV004537362

NM_000426.4(LAMA2):c.1816A>G (p.Ile606Val)

SNV
Germline

Chr6:129250145

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA240011

rs_113022759

4 SubmittersRCV000724306 RCV001240233 RCV005042371

NM_000426.4(LAMA2):c.2289G>A (p.Ala763=)

SNV
Germline

Chr6:129267186

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA240654

rs_754496465

2 SubmittersRCV000175009 RCV001852135

NM_000426.4(LAMA2):c.2382C>T (p.Gly794=)

SNV
Germline

Chr6:129270683

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA240825

rs_147744763

4 SubmittersRCV000724616 RCV001086152

NM_000426.4(LAMA2):c.2749+1G>C

SNV
Germline

Chr6:129288059

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275053

rs_759555791

5 SubmittersRCV000175397 RCV000799916 RCV000724720

NM_000426.4(LAMA2):c.2993G>A (p.Arg998His)

SNV
Germline

Chr6:129297821

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242031

rs_144946631

6 SubmittersRCV000176161 RCV001238989 RCV002517692

NM_000426.4(LAMA2):c.3645A>G (p.Pro1215=)

SNV
Germline

Chr6:129315565

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA242502

rs_794727396

2 SubmittersRCV000176525 RCV001088896

NM_000426.4(LAMA2):c.3585A>G (p.Leu1195=)

SNV
Germline

Chr6:129315505

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA242505

rs_780444488

3 SubmittersRCV000176526 RCV001156480 RCV001421593

NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)

SNV
Germline

Chr6:129349348

Conflicting classifications of pathogenicity

not specified
Merosin deficient congenital muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA208965

rs_147077184

20 SubmittersRCV000194655 RCV000509423 RCV000659062 RCV000709620 RCV001081183 RCV001152676 RCV004537432 RCV005396541 RCV005889931

NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)

SNV
Germline

Chr6:129369957

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA244659

rs_62421010

8 SubmittersRCV000724205 RCV001080672 RCV001153957 RCV004537449

NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)

SNV
Germline

Chr6:129383131

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA244760

rs_370971334

6 SubmittersRCV000177826 RCV000724455 RCV000764628 RCV001248058

NM_000426.4(LAMA2):c.5562+5G>C

SNV
Germline

Chr6:129401345

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA275231

rs_771046502

8 SubmittersRCV000177930 RCV000700168 RCV000723487 RCV002478589

NM_000426.4(LAMA2):c.5601T>G (p.Ser1867=)

SNV
Germline

Chr6:129402362

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA244970

rs_780368037

2 SubmittersRCV000177969 RCV001088723

NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)

SNV
Germline

Chr6:129438679

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA245596

rs_151009169

6 SubmittersRCV000724137 RCV001081296 RCV004539668

NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)

SNV
Germline

Chr6:129440891

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Intellectual disability
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA205852

rs_56035053

19 SubmittersRCV000178515 RCV000192788 RCV000509541 RCV000549092 RCV001154910 RCV001252049 RCV002516776 RCV005621903

NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)

SNV
Germline

Chr6:129454210

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA245792

rs_78880369

5 SubmittersRCV000178615 RCV001082197 RCV001152900 RCV004539671

NM_000426.4(LAMA2):c.6816T>C (p.Asp2272=)

SNV
Germline

Chr6:129456443

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA245832

rs_794727687

2 SubmittersRCV000178646 RCV002517741

NM_000426.4(LAMA2):c.7300+10T>A

SNV
Germline

Chr6:129465299

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA207908

rs_200469923

11 SubmittersRCV000194022 RCV000724719 RCV001083655 RCV001155020 RCV004539676

NM_000426.4(LAMA2):c.7440-9G>A

SNV
Germline

Chr6:129475381

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA246351

rs_369558532

4 SubmittersRCV000723867 RCV001088481

NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)

SNV
Germline

Chr6:129486534

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA275319

rs_766920075

8 SubmittersRCV000179173 RCV001225446 RCV003468868 RCV005031713

NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)

SNV
Germline

Chr6:129503230

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246861

rs_794727815

4 SubmittersRCV000179578 RCV002492787 RCV002515279 RCV005589784

NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)

SNV
Germline

Chr6:129177707

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA208610

rs_41285286

11 SubmittersRCV000194438 RCV000364705 RCV000512960 RCV001083810 RCV004530129

NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)

SNV
Germline

Chr6:129312965

Conflicting classifications of pathogenicity

not specified
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA207038

rs_371376404

4 SubmittersRCV000193502 RCV000670884 RCV001504467 RCV004530130

NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)

SNV
Germline

Chr6:129383183

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Condition: not provided
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA205986

rs_143333246

4 SubmittersRCV000192867 RCV000875855 RCV003129798 RCV004530131

NM_000426.4(LAMA2):c.5670G>T (p.Val1890=)

SNV
Germline

Chr6:129402431

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
See cases

Criteria Provided
Conflicting Classifications

CA207394

rs_374587087

3 SubmittersRCV000193715 RCV001412571 RCV002252046

NM_000426.4(LAMA2):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr6:129098299

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA351346

rs_863224891

1 SubmittersRCV000806245

NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)

SNV
Germline

Chr6:129440858

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
not specified
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA3994114

rs_144155507

11 SubmittersRCV000224036 RCV000341200 RCV000535681 RCV000522850 RCV005589793 RCV005625461

NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)

SNV
Germline

Chr6:129148991

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
not specified
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992479

rs_146462599

10 SubmittersRCV000224668 RCV000340277 RCV000498838 RCV000529189

NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:129165672

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA10581431

rs_773209126

9 SubmittersRCV000224579 RCV000531230 RCV000670070 RCV004799201

NM_000426.4(LAMA2):c.411G>A (p.Ala137=)

SNV
Germline

Chr6:129098187

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992334

rs_149347601

8 SubmittersRCV000244548 RCV000279526 RCV000712186 RCV001080784

NM_000426.4(LAMA2):c.1782+14T>C

SNV
Germline

Chr6:129192867

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992730

rs_191215452

5 SubmittersRCV000242661 RCV001152470 RCV002055039 RCV001705334

NM_000426.4(LAMA2):c.2376C>T (p.Phe792=)

SNV
Germline

Chr6:129270677

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10586924

rs_150046431

3 SubmittersRCV000243192 RCV002472981 RCV002519880

NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)

SNV
Germline

Chr6:129288045

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993035

rs_142671449

6 SubmittersRCV000253127 RCV000355209 RCV000726006 RCV001086525

NM_000426.4(LAMA2):c.2749+24C>A

SNV
Germline

Chr6:129288082

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586925

rs_886038292

2 SubmittersRCV000243515 RCV003133198

NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=)

SNV
Germline

Chr6:129315517

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993313

rs_199904029

4 SubmittersRCV000251418 RCV000877822 RCV001156481 RCV001697622

NM_000426.4(LAMA2):c.6706A>C (p.Arg2236=)

SNV
Germline

Chr6:129454287

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10586927

rs_886038293

3 SubmittersRCV000248642 RCV004591105 RCV005090257

NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=)

SNV
Germline

Chr6:129505238

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994870

rs_142451929

6 SubmittersRCV000252053 RCV000383105 RCV000712198 RCV001084286

NM_000426.4(LAMA2):c.8989-12C>G

SNV
Germline

Chr6:129514361

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3995006

rs_144860334

5 SubmittersRCV000248588 RCV000406237 RCV000669466 RCV001429545 RCV002225537

NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)

SNV
Germline

Chr6:129393184

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588407

rs_746201268

5 SubmittersRCV000255424 RCV000684848 RCV003463718 RCV005031839

NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)

SNV
Germline

Chr6:129401254

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Inborn genetic diseases
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993894

rs_747349942

13 SubmittersRCV000255824 RCV000548471 RCV000666714 RCV002521854 RCV003229588 RCV005044514

NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)

SNV
Germline

Chr6:129505317

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Abnormality of the musculature

Criteria Provided
Single Submitter

CA10588944

rs_886039896

2 SubmittersRCV000256378 RCV001814136

NM_000426.4(LAMA2):c.396+1G>T

SNV
Germline

Chr6:129059897

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA3992309

rs_770617208

7 SubmittersRCV000316746 RCV000553357 RCV000725186 RCV003152703

NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)

SNV
Germline

Chr6:129516318

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3995105

rs_200796753

7 SubmittersRCV000725292 RCV001085018 RCV001155234

NM_000426.4(LAMA2):c.6444G>A (p.Val2148=)

SNV
Germline

Chr6:129453002

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994275

rs_781231694

2 SubmittersRCV000299455 RCV001458456

NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)

SNV
Germline

Chr6:129316161

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993416

rs_756854513

11 SubmittersRCV000399363 RCV000725563 RCV001390276 RCV005031859

NM_000426.4(LAMA2):c.6426T>C (p.Asn2142=)

SNV
Germline

Chr6:129445818

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994253

rs_150730793

3 SubmittersRCV000303022 RCV001088715

NM_000426.4(LAMA2):c.5518G>A (p.Asp1840Asn)

SNV
Germline

Chr6:129401296

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993902

rs_759350875

4 SubmittersRCV000300413 RCV000556228 RCV002519170

NM_000426.4(LAMA2):c.7439+1G>A

SNV
Germline

Chr6:129473353

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10605757

rs_886043630

2 SubmittersRCV000292245 RCV003574726

NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)

SNV
Germline

Chr6:129144078

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10605782

rs_886043648

3 SubmittersRCV000326246 RCV000726019 RCV005090373

NM_000426.4(LAMA2):c.7155+1G>A

SNV
Germline

Chr6:129464453

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10605831

rs_886043692

4 SubmittersRCV000367418 RCV001859670

NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)

SNV
Germline

Chr6:129391535

Pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993781

rs_758775001

9 SubmittersRCV000763554 RCV000726090 RCV003388578 RCV000328095 RCV000530826

NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=)

SNV
Germline

Chr6:129445737

Conflicting classifications of pathogenicity

Condition: not provided
not specified
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994246

rs_200364660

3 SubmittersRCV000726398 RCV000330626 RCV001086978

NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter)

SNV
Germline

Chr6:129270653

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10606627

rs_886044330

1 SubmittersRCV000335134

NM_000426.4(LAMA2):c.8211A>C (p.Pro2737=)

SNV
Germline

Chr6:129492450

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994761

rs_369596190

2 SubmittersRCV000283444 RCV001503690

NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter)

SNV
Germline

Chr6:129402366

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10606868

rs_746762473

1 SubmittersRCV000306212

NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)

SNV
Germline

Chr6:129297842

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3993129

rs_139244736

6 SubmittersRCV000387835 RCV000542768 RCV004021311 RCV004537616

NM_000426.4(LAMA2):c.237G>A (p.Arg79=)

SNV
Germline

Chr6:129050042

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992250

rs_201402165

2 SubmittersRCV000292575 RCV000955640

NM_000426.4(LAMA2):c.819+7T>C

SNV
Germline

Chr6:129144087

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10621357

rs_886061044

2 SubmittersRCV000304070 RCV005090581

NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)

SNV
Germline

Chr6:129177772

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992592

rs_140604077

6 SubmittersRCV000270098 RCV000658392 RCV000546108 RCV002487557

NM_000426.4(LAMA2):c.1467+12A>G

SNV
Germline

Chr6:129177878

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992611

rs_200224891

2 SubmittersRCV000370441 RCV002061304

NM_000426.4(LAMA2):c.2149A>G (p.Ile717Val)

SNV
Germline

Chr6:129260763

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992839

rs_369049149

3 SubmittersRCV000345645 RCV000654739 RCV003129845

NM_000426.4(LAMA2):c.2857-13C>T

SNV
Germline

Chr6:129297672

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
not specified
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993091

rs_201188972

3 SubmittersRCV000361101 RCV000606650 RCV002061305

NM_000426.4(LAMA2):c.3555+10G>A

SNV
Germline

Chr6:129314808

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993283

rs_767221324

2 SubmittersRCV000289257 RCV002061306

NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)

SNV
Germline

Chr6:129383155

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
not specified
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993749

rs_373997222

6 SubmittersRCV000654755 RCV000364458 RCV002461105 RCV003401370 RCV005398485

NM_000426.4(LAMA2):c.5360G>C (p.Trp1787Ser)

SNV
Germline

Chr6:129393170

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993854

rs_747621078

3 SubmittersRCV000294738 RCV002061307 RCV005589828

NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)

SNV
Germline

Chr6:129401336

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3993913

rs_141911213

6 SubmittersRCV000554917 RCV001508563 RCV000372398 RCV004544662

NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys)

SNV
Germline

Chr6:129440936

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3994133

rs_117884199

3 SubmittersRCV000363181 RCV000654772 RCV004544663

NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu)

SNV
Germline

Chr6:129481330

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
not specified
Condition: not provided
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3994629

rs_115488979

5 SubmittersRCV000398215 RCV000529804 RCV005431640 RCV001718763 RCV004530429

NM_000426.4(LAMA2):c.8464T>C (p.Leu2822=)

SNV
Germline

Chr6:129503197

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994838

rs_199570699

2 SubmittersRCV000264416 RCV001410804

NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)

SNV
Germline

Chr6:129507513

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3994908

rs_141479751

7 SubmittersRCV000381871 RCV000593173 RCV001081806 RCV004530430

NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=)

SNV
Germline

Chr6:129314672

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993261

rs_200646230

3 SubmittersRCV000382301 RCV000945351 RCV001705521

NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=)

SNV
Germline

Chr6:129369975

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993724

rs_111632017

4 SubmittersRCV000361333 RCV004544661 RCV000871234 RCV006443131

NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)

SNV
Germline

Chr6:129464354

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Primary dilated cardiomyopathy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994427

rs_145885540

11 SubmittersRCV000284205 RCV000536495 RCV000712196 RCV000764631 RCV001293062 RCV003992282

NM_000426.4(LAMA2):c.30T>G (p.Leu10=)

SNV
Germline

Chr6:128883275

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10625731

rs_886061038

3 SubmittersRCV000272619 RCV001477773 RCV003133243

NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile)

SNV
Germline

Chr6:129154562

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Inborn genetic diseases
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3992519

rs_182958473

3 SubmittersRCV000394746 RCV003352846 RCV004771472

NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=)

SNV
Germline

Chr6:129401247

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
not specified
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993891

rs_753886576

4 SubmittersRCV000281305 RCV000595086 RCV000726898 RCV001079286

NM_000426.4(LAMA2):c.6438A>G (p.Val2146=)

SNV
Germline

Chr6:129452996

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994273

rs_755485519

2 SubmittersRCV000262751 RCV000942762

NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)

SNV
Germline

Chr6:129507621

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
not specified
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994926

rs_370843758

5 SubmittersRCV000294689 RCV000673324 RCV000691737 RCV002229896 RCV002487559

NM_000426.4(LAMA2):c.1506C>A (p.Ser502=)

SNV
Germline

Chr6:129190243

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10625842

rs_560445624

2 SubmittersRCV000331653 RCV003766043

NM_000426.4(LAMA2):c.1716G>C (p.Ala572=)

SNV
Germline

Chr6:129192787

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992708

rs_758682648

2 SubmittersRCV000342971 RCV001448458

NM_000426.4(LAMA2):c.2323-7T>G

SNV
Germline

Chr6:129270617

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10625850

rs_762740616

2 SubmittersRCV000396657 RCV003736745

NM_000426.4(LAMA2):c.3666C>A (p.Asp1222Glu)

SNV
Germline

Chr6:129315586

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993326

rs_373992160

2 SubmittersRCV000292683 RCV002523542

NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)

SNV
Germline

Chr6:129328306

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993481

rs_144830879

5 SubmittersRCV000397163 RCV000695834 RCV000764626 RCV002520403 RCV003133244

NM_000426.4(LAMA2):c.4959+6G>T

SNV
Germline

Chr6:129369996

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3993728

rs_148060790

8 SubmittersRCV000727346 RCV001086908 RCV000321483

NM_000426.4(LAMA2):c.6429+10T>G

SNV
Germline

Chr6:129445831

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3994255

rs_770063449

3 SubmittersRCV000373822 RCV000909660 RCV004530427

NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)

SNV
Germline

Chr6:129456459

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Inborn genetic diseases
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994372

rs_146854942

11 SubmittersRCV000376263 RCV000700908 RCV001266074 RCV002487558 RCV000726647

NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=)

SNV
Germline

Chr6:129473257

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994521

rs_199931560

3 SubmittersRCV000346252 RCV000950286 RCV001086145

NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=)

SNV
Germline

Chr6:129478720

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
not specified
LAMA2-related disorder
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994583

rs_368989339

4 SubmittersRCV000345453 RCV000616343 RCV004530428 RCV001407826

NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)

SNV
Germline

Chr6:129492462

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
not specified
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994763

rs_150596964

9 SubmittersRCV000379832 RCV000499554 RCV000525663 RCV001531021

NM_000426.4(LAMA2):c.9240C>A (p.Thr3080=)

SNV
Germline

Chr6:129516218

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3995080

rs_759819184

2 SubmittersRCV000337508 RCV000897780

NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)

SNV
Germline

Chr6:129312930

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Intellectual disability
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993219

rs_146490004

7 SubmittersRCV000413698 RCV000557605 RCV000764623 RCV001252052 RCV001508557 RCV002523936

NM_000426.4(LAMA2):c.3555+1G>A

SNV
Germline

Chr6:129314799

Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042627

rs_1057518119

3 SubmittersRCV000413320 RCV003766151 RCV005033942

NM_000426.4(LAMA2):c.8245-2A>G

SNV
Germline

Chr6:129502657

Pathogenic/Likely pathogenic

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042658

rs_914395925

4 SubmittersRCV000414051 RCV000779488 RCV003574768 RCV003463817

NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)

SNV
Germline

Chr6:129401308

Conflicting classifications of pathogenicity

Condition: not provided
not specified
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3993905

rs_56173620

6 SubmittersRCV000415922 RCV000493358 RCV001080471 RCV001152793 RCV004544728

NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr6:128883319

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Inborn genetic diseases
LAMA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3992202

rs_145310035

9 SubmittersRCV000514861 RCV001083278 RCV001156178 RCV004022339 RCV004532993 RCV005407097

NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)

SNV
Germline

Chr6:129250143

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Condition: not provided
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3992752

rs_112388307

8 SubmittersRCV000426949 RCV000874720 RCV001288666 RCV004532988

NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His)

SNV
Germline

Chr6:129464355

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994428

rs_548483084

4 SubmittersRCV000551529 RCV001698140 RCV003372705

NM_000426.4(LAMA2):c.2856+13G>A

SNV
Germline

Chr6:129291733

Conflicting classifications of pathogenicity

not specified
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993077

rs_149487202

3 SubmittersRCV000434197 RCV001152569 RCV002059815

NM_000426.4(LAMA2):c.4436+5G>T

SNV
Germline

Chr6:129342472

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16605021

rs_1057524616

2 SubmittersRCV000424965 RCV002525511

NM_000426.4(LAMA2):c.283+1G>A

SNV
Germline

Chr6:129050089

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA3992263

rs_200288072

7 SubmittersRCV000444644 RCV000529392 RCV000665566 RCV005044638

NM_000426.4(LAMA2):c.4176+9C>T

SNV
Germline

Chr6:129320664

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993459

rs_117116822

5 SubmittersRCV000434004 RCV000654754 RCV001158144 RCV004539880 RCV006443428

NM_000426.4(LAMA2):c.4436+6A>G

SNV
Germline

Chr6:129342473

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16605450

rs_1057523624

2 SubmittersRCV000421008 RCV006462801

NM_000426.4(LAMA2):c.1499G>A (p.Cys500Tyr)

SNV
Germline

Chr6:129190236

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16618239

rs_1064794941

1 SubmittersRCV000484636

NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)

SNV
Germline

Chr6:129349384

Pathogenic/Likely pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA3993578

rs_770084568

4 SubmittersRCV000483171 RCV000984190 RCV001389983 RCV005034021

NM_000426.4(LAMA2):c.5866-1G>A

SNV
Germline

Chr6:129427751

Pathogenic/Likely pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA16618242

rs_1064797040

6 SubmittersRCV000479998 RCV000674058 RCV001851279 RCV001823143

NM_000426.4(LAMA2):c.6708-3A>C

SNV
Germline

Chr6:129456332

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3994352

rs_112637707

8 SubmittersRCV000481995 RCV001087476 RCV001154185 RCV004541528

NM_000426.4(LAMA2):c.8452C>G (p.Leu2818Val)

SNV
Germline

Chr6:129503185

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA16618243

rs_1064795750

2 SubmittersRCV000480247 RCV005252915

NM_000426.4(LAMA2):c.8918C>T (p.Thr2973Met)

SNV
Germline

Chr6:129512423

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994969

rs_145842163

6 SubmittersRCV000729717 RCV000802778 RCV001356828

NM_000426.4(LAMA2):c.1027+1G>A

SNV
Germline

Chr6:129149097

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16621846

rs_1064797327

1 SubmittersRCV000488063

NM_000426.4(LAMA2):c.8076-7C>G

SNV
Germline

Chr6:129492308

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA146918203

rs_555377928

2 SubmittersRCV000489494 RCV002056812

NM_000426.4(LAMA2):c.4717+1G>T

SNV
Germline

Chr6:129353358

Pathogenic/Likely pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365618953

rs_1131691660

5 SubmittersRCV000494223 RCV000664588 RCV000654738

NM_000426.4(LAMA2):c.9001G>C (p.Val3001Leu)

SNV
Germline

Chr6:129514385

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3995011

rs_189360899

6 SubmittersRCV000493864 RCV000526476 RCV001151354

NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)

SNV
Germline

Chr6:129393101

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993839

rs_141950826

6 SubmittersRCV000712189 RCV000689906 RCV003302734

NM_000426.4(LAMA2):c.6047T>C (p.Leu2016Ser)

SNV
Germline

Chr6:129438724

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994082

rs_773309064

5 SubmittersRCV000497656 RCV001361569 RCV002524079

NM_000426.4(LAMA2):c.6605G>T (p.Gly2202Val)

SNV
Germline

Chr6:129454186

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365616947

rs_1554299897

1 SubmittersRCV000497707

NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)

SNV
Germline

Chr6:129464371

Pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3994436

rs_762806915

7 SubmittersRCV000498487 RCV000665940 RCV000763555 RCV000815600

NM_000426.4(LAMA2):c.7112T>G (p.Phe2371Cys)

SNV
Germline

Chr6:129464409

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994441

rs_201274841

3 SubmittersRCV000497710 RCV000699578 RCV003352895

NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)

SNV
Germline

Chr6:129507627

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy
Primary dilated cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA3994930

rs_143638361

7 SubmittersRCV000723578 RCV000764636 RCV001086813 RCV001293224 RCV006458429

NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)

SNV
Germline

Chr6:129267114

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA3992869

rs_192317605

7 SubmittersRCV000501465 RCV000535129 RCV000665212 RCV001153747 RCV001270112 RCV001507679 RCV005899878

NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)

SNV
Germline

Chr6:129464385

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3994438

rs_371403343

6 SubmittersRCV000500474 RCV000557131 RCV000764632 RCV001509285 RCV004541559

NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)

SNV
Germline

Chr6:129503257

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994847

rs_140178576

5 SubmittersRCV000503356 RCV000764635 RCV001240299 RCV003133284

NM_000426.4(LAMA2):c.9254G>A (p.Arg3085Gln)

SNV
Germline

Chr6:129516232

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3995085

rs_776606476

6 SubmittersRCV000501974 RCV000824214 RCV001155233 RCV003133283 RCV004023380

NM_000426.4(LAMA2):c.7452-1G>A

SNV
Germline

Chr6:129478692

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365626127

rs_1554304931

1 SubmittersRCV000500923

NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)

SNV
Germline

Chr6:129440959

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994141

rs_142264176

4 SubmittersRCV000509339 RCV000527643 RCV001821424 RCV003133294

NM_000426.4(LAMA2):c.4960-17C>A

SNV
Germline

Chr6:129383105

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA451934336

rs_758048596

8 SubmittersRCV000513320 RCV001857325 RCV003470642 RCV005044762

NM_000426.4(LAMA2):c.8988+15T>C

SNV
Germline

Chr6:129512508

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994991

rs_201041465

5 SubmittersRCV000514828 RCV001151353 RCV002060197

NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe)

SNV
Germline

Chr6:129098264

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992348

rs_201175472

6 SubmittersRCV000517812 RCV001591167 RCV001851444 RCV006362403

NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)

SNV
Germline

Chr6:129177799

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992597

rs_138162760

6 SubmittersRCV000518091 RCV000560647 RCV001333431 RCV001507676 RCV002525050

NM_000426.4(LAMA2):c.1873A>G (p.Ile625Val)

SNV
Germline

Chr6:129250202

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992762

rs_141658354

6 SubmittersRCV000516242 RCV000686319 RCV001796091

NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)

SNV
Germline

Chr6:129280087

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3992959

rs_759973830

6 SubmittersRCV000518412 RCV000815597 RCV000764622

NM_000426.4(LAMA2):c.3924+2T>C

SNV
Germline

Chr6:129315952

Pathogenic

Congenital muscular dystrophy due to partial LAMA2 deficiency
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, congenital, merosin deficient or partially deficient

Criteria Provided
Multiple Submitters
No Conflicts

CA365613577

rs_1554269966

8 SubmittersRCV000015363 RCV000985057 RCV000518321 RCV001857909 RCV000853232 RCV004527387

NM_000426.4(LAMA2):c.5234+1G>A

SNV
Germline

Chr6:129391654

Pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Inborn genetic diseases
Abnormality of the musculature
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA3993804

rs_781376927

8 SubmittersRCV000516970 RCV000987774 RCV001068964 RCV001267180 RCV001814178 RCV005044769

NM_000426.4(LAMA2):c.5689G>A (p.Ala1897Thr)

SNV
Germline

Chr6:129402450

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993954

rs_200518204

5 SubmittersRCV000518765 RCV000654769 RCV001154065 RCV001508564

NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)

SNV
Germline

Chr6:129492013

Conflicting classifications of pathogenicity

not specified
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994717

rs_780695627

5 SubmittersRCV000517410 RCV000764634 RCV000823641 RCV001154297 RCV003133298

NM_000426.4(LAMA2):c.8147G>A (p.Arg2716His)

SNV
Germline

Chr6:129492386

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994750

rs_142781107

6 SubmittersRCV000518446 RCV000689949 RCV002527492 RCV003129880

NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)

SNV
Germline

Chr6:129149015

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3992484

rs_141340479

6 SubmittersRCV000520035 RCV000764621 RCV001086334 RCV001153657

NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)

SNV
Germline

Chr6:129192728

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365608189

rs_1303773212

4 SubmittersRCV000523102 RCV000709844 RCV003470661

NM_000426.4(LAMA2):c.2767G>A (p.Gly923Ser)

SNV
Germline

Chr6:129291631

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3993064

rs_144492513

3 SubmittersRCV000519809 RCV000702908 RCV006458461

NM_000426.4(LAMA2):c.2932G>A (p.Asp978Asn)

SNV
Germline

Chr6:129297760

Conflicting classifications of pathogenicity

Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993112

rs_202050052

5 SubmittersRCV000523512 RCV001152570 RCV002060278

NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly)

SNV
Germline

Chr6:129300852

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3993180

rs_149165006

4 SubmittersRCV000522346 RCV000689663 RCV004541633

NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)

SNV
Germline

Chr6:129349332

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3993565

rs_375640462

6 SubmittersRCV000520057 RCV000714624 RCV000714625 RCV001821455

NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)

SNV
Germline

Chr6:129146967

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146884965

rs_1028599119

3 SubmittersRCV000553778 RCV003470798 RCV005398868

NM_000426.4(LAMA2):c.1467+1G>A

SNV
Germline

Chr6:129177867

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA365607742

rs_1554234161

2 SubmittersRCV000544760 RCV001783062

NM_000426.4(LAMA2):c.1467+1G>T

SNV
Germline

Chr6:129177867

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607744

rs_1554234161

1 SubmittersRCV000559292

NM_000426.4(LAMA2):c.2039A>G (p.Asn680Ser)

SNV
Germline

Chr6:129252238

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992804

rs_774139365

3 SubmittersRCV000546757 RCV002527940 RCV005869614

NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)

SNV
Germline

Chr6:129267137

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992875

rs_139843107

4 SubmittersRCV000528186 RCV002483505 RCV003139866 RCV005659937

NM_000426.4(LAMA2):c.2288C>T (p.Ala763Val)

SNV
Germline

Chr6:129267185

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3992880

rs_141521127

5 SubmittersRCV000533655 RCV000657928 RCV001156365

NM_000426.4(LAMA2):c.2361A>C (p.Lys787Asn)

SNV
Germline

Chr6:129270662

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992917

rs_549956055

4 SubmittersRCV000527809 RCV003126820 RCV004024400

NM_000426.4(LAMA2):c.3628A>G (p.Ile1210Val)

SNV
Germline

Chr6:129315548

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993321

rs_147291222

5 SubmittersRCV000538799 RCV001508558 RCV004024401

NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)

SNV
Germline

Chr6:129316123

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3993409

rs_139739075

10 SubmittersRCV000541809 RCV000664838 RCV001158142 RCV001508559 RCV002483507

NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys)

SNV
Germline

Chr6:129369940

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993714

rs_138303386

7 SubmittersRCV000524771 RCV000712188 RCV001153956 RCV002526746

NM_000426.4(LAMA2):c.8890G>T (p.Val2964Leu)

SNV
Germline

Chr6:129512395

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3994959

rs_202159946

3 SubmittersRCV000527451 RCV001151351 RCV005398869

NM_000426.4(LAMA2):c.819+2T>C

SNV
Germline

Chr6:129144082

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365606255

rs_1554226188

1 SubmittersRCV000551647

NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)

SNV
Germline

Chr6:129291700

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146895738

rs_375638381

2 SubmittersRCV000544291 RCV003470795

NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter)

SNV
Germline

Chr6:129315855

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613369

rs_1554269891

3 SubmittersRCV000528418 RCV002508785 RCV005034126

NM_000426.4(LAMA2):c.4786A>G (p.Ile1596Val)

SNV
Germline

Chr6:129366287

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993668

rs_774875437

3 SubmittersRCV000525965 RCV003159942 RCV005632501

NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)

SNV
Germline

Chr6:129401287

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3993899

rs_749423866

4 SubmittersRCV000541554 RCV001334438 RCV003133367 RCV004543248

NM_000426.4(LAMA2):c.8547+1G>T

SNV
Germline

Chr6:129503281

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365634512

rs_1554315373

1 SubmittersRCV000543273

NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)

SNV
Germline

Chr6:129098318

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992360

rs_143664472

4 SubmittersRCV000537196 RCV001810461 RCV003133365

NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)

SNV
Germline

Chr6:129165669

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365607367

rs_1374568851

6 SubmittersRCV000553179 RCV000984281 RCV004721444 RCV005034125

NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)

SNV
Germline

Chr6:129192721

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3992685

rs_899353

7 SubmittersRCV000712181 RCV001083246 RCV001157938 RCV001333433 RCV006458622

NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=)

SNV
Germline

Chr6:129328412

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146890401

rs_1047569721

2 SubmittersRCV000544823

NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)

SNV
Germline

Chr6:129369907

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993707

rs_369776766

5 SubmittersRCV000536256 RCV002227483 RCV003470796

NM_000426.4(LAMA2):c.5143G>A (p.Glu1715Lys)

SNV
Germline

Chr6:129391562

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993787

rs_539321303

2 SubmittersRCV000556848 RCV003133363

NM_000426.4(LAMA2):c.6268+2T>C

SNV
Germline

Chr6:129441000

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA365629811

rs_1554297727

2 SubmittersRCV000548839 RCV004984981

NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn)

SNV
Germline

Chr6:129507546

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
LAMA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3994916

rs_139159258

4 SubmittersRCV000560653 RCV003133369 RCV004543250 RCV005407743

NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:128883247

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA147234456

rs_374403765

7 SubmittersRCV000532735 RCV000672881 RCV001090685 RCV005357620

NM_000426.4(LAMA2):c.5072-10C>A

SNV
Germline

Chr6:129391481

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related disorder
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA3993772

rs_552989582

5 SubmittersRCV000539249 RCV001154810 RCV001558576 RCV004543247 RCV005898456

NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)

SNV
Germline

Chr6:129393215

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Inborn genetic diseases
Condition: not provided
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA3993865

rs_141235562

6 SubmittersRCV000527012 RCV000764629 RCV002526747 RCV003133364 RCV005898457

NM_000426.4(LAMA2):c.5470G>A (p.Gly1824Ser)

SNV
Germline

Chr6:129401248

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993892

rs_370150883

2 SubmittersRCV000526524 RCV003133366

NM_000426.4(LAMA2):c.5866-2A>G

SNV
Germline

Chr6:129427750

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365623861

rs_1554295204

2 SubmittersRCV000542890 RCV000668522

NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=)

SNV
Germline

Chr6:129445671

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3994234

rs_141190803

7 SubmittersRCV000530314 RCV001156580 RCV001697318 RCV004543249 RCV006264083

NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=)

SNV
Germline

Chr6:129491967

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3994707

rs_141101234

5 SubmittersRCV000596361 RCV001087120 RCV001151228

NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser)

SNV
Germline

Chr6:129512425

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994972

rs_140202046

6 SubmittersRCV000537632 RCV000730617 RCV001291750 RCV001291824 RCV002527941

NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter)

SNV
Germline

Chr6:129312923

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365611766

rs_1554268940

2 SubmittersRCV000591735 RCV003767347

NM_000426.4(LAMA2):c.8467C>T (p.Pro2823Ser)

SNV
Germline

Chr6:129503200

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994839

rs_151334775

5 SubmittersRCV000596219 RCV000794411

NM_000426.4(LAMA2):c.4166T>C (p.Leu1389Pro)

SNV
Germline

Chr6:129320645

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993457

rs_752934825

6 SubmittersRCV000594239 RCV000694386 RCV002532447

NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter)

SNV
Germline

Chr6:129492394

Pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365631453

rs_1289855948

2 SubmittersRCV000591127 RCV000984279

NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser)

SNV
Germline

Chr6:129192716

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992684

rs_139070796

5 SubmittersRCV000594834 RCV001064111

NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp)

SNV
Germline

Chr6:129393127

Conflicting classifications of pathogenicity

not specified
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993845

rs_138695453

3 SubmittersRCV000614320 RCV001860336 RCV003139929

NM_000426.4(LAMA2):c.3582T>C (p.Ile1194=)

SNV
Germline

Chr6:129315502

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993307

rs_137962409

4 SubmittersRCV000873560 RCV001085327

NM_000426.4(LAMA2):c.2450+16A>G

SNV
Germline

Chr6:129270767

Conflicting classifications of pathogenicity

not specified
Myalgia
Elevated circulating creatine kinase concentration
Exercise-induced myalgia
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA146880637

rs_1024374408

3 SubmittersRCV000607151 RCV000626686 RCV002529411

NM_000426.4(LAMA2):c.9212-11G>A

SNV
Germline

Chr6:129516179

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3995074

rs_770088527

3 SubmittersRCV001154397 RCV001707798 RCV002064151

NM_000426.4(LAMA2):c.6350A>G (p.Lys2117Arg)

SNV
Germline

Chr6:129445742

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994248

rs_750866614

2 SubmittersRCV000654759 RCV004985053

NM_000426.4(LAMA2):c.8244T>C (p.His2748=)

SNV
Germline

Chr6:129492483

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994769

rs_981372351

2 SubmittersRCV000654780 RCV004025935

NM_000426.4(LAMA2):c.437C>G (p.Ser146Cys)

SNV
Germline

Chr6:129098213

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
not specified
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992339

rs_143680577

6 SubmittersRCV000654711 RCV001572301 RCV004586852 RCV005392247

NM_000426.4(LAMA2):c.5060G>A (p.Arg1687Gln)

SNV
Germline

Chr6:129383222

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993759

rs_767209477

3 SubmittersRCV000654741 RCV003133472 RCV005589874

NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=)

SNV
Germline

Chr6:129502712

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994790

rs_145295628

3 SubmittersRCV000654765 RCV001154300 RCV003424259

NM_000426.4(LAMA2):c.8388A>C (p.Glu2796Asp)

SNV
Germline

Chr6:129503121

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3994825

rs_184127828

4 SubmittersRCV000654725 RCV001155132 RCV003133470 RCV005034225

NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile)

SNV
Germline

Chr6:129315888

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993373

rs_758134778

3 SubmittersRCV000654730 RCV000764625 RCV004025934

NM_000426.4(LAMA2):c.7604G>A (p.Gly2535Asp)

SNV
Germline

Chr6:129481294

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994617

rs_374210667

3 SubmittersRCV000654736 RCV003129975 RCV004985052

NM_000426.4(LAMA2):c.8977A>G (p.Ile2993Val)

SNV
Germline

Chr6:129512482

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3994985

rs_145331792

5 SubmittersRCV000654719 RCV002534211 RCV003133469 RCV005407847

NM_000426.4(LAMA2):c.1027+1G>T

SNV
Germline

Chr6:129149097

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365606742

rs_1064797327

2 SubmittersRCV000654747 RCV000671034

NM_000426.4(LAMA2):c.3736-2A>T

SNV
Germline

Chr6:129315760

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3993353

rs_372715292

4 SubmittersRCV000654722 RCV000668700 RCV001556699

NM_000426.4(LAMA2):c.7780C>T (p.Arg2594Cys)

SNV
Germline

Chr6:129486504

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994665

rs_546988105

4 SubmittersRCV000654723 RCV001509288

NM_000426.4(LAMA2):c.6992+5G>A

SNV
Germline

Chr6:129460329

Conflicting classifications of pathogenicity

Condition: not provided
Merosin deficient congenital muscular dystrophy
LAMA2-related disorder
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA570054380

rs_1221715098

5 SubmittersRCV000657979 RCV000673048 RCV004527719 RCV004813130 RCV005091890

NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr6:129059863

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3992299

rs_535635043

5 SubmittersRCV000666830 RCV000817157 RCV001784240

NM_000426.4(LAMA2):c.1307-1G>A

SNV
Unknown

Chr6:129177705

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365607386

rs_1554234051

2 SubmittersRCV000674135

NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr6:129267127

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3992871

rs_775676341

4 SubmittersRCV000669872 RCV000691208 RCV005034254

NM_000426.4(LAMA2):c.2749+1G>A

SNV
Germline

Chr6:129288059

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993040

rs_759555791

4 SubmittersRCV000667925 RCV001390274 RCV001810470

NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)

SNV
Germline

Chr6:129312969

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3993224

rs_376088608

2 SubmittersRCV000671981 RCV001240118

NM_000426.4(LAMA2):c.3736-2A>G

SNV
Unknown

Chr6:129315760

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365613158

rs_372715292

1 SubmittersRCV000672465

NM_000426.4(LAMA2):c.4176+1G>A

SNV
Germline

Chr6:129320656

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16609646

rs_1404492484

3 SubmittersRCV000668352 RCV001855496

NM_000426.4(LAMA2):c.4524-2A>T

SNV
Germline

Chr6:129353162

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365617690

rs_1554278541

4 SubmittersRCV000671265

NM_000426.4(LAMA2):c.6573+1G>A

SNV
Germline

Chr6:129453132

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA3994297

rs_757435241

4 SubmittersRCV000666889 RCV001219998 RCV005046864 RCV005901452

NM_000426.4(LAMA2):c.6573+1G>T

SNV
Unknown

Chr6:129453132

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365616801

rs_757435241

1 SubmittersRCV000674576

NM_000426.4(LAMA2):c.7572+1G>A

SNV
Unknown

Chr6:129478814

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365627064

rs_1554305006

1 SubmittersRCV000666862

NM_000426.4(LAMA2):c.8244+1G>A

SNV
Germline

Chr6:129492484

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Condition: not provided
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA3994771

rs_749522728

9 SubmittersRCV000665939 RCV000809347 RCV000763557 RCV001597197 RCV005901445

NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter)

SNV
Unknown

Chr6:129516273

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA3995094

rs_749797580

1 SubmittersRCV000669044

NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr6:128883306

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365828264

rs_886061039

2 SubmittersRCV000673285 RCV002531335

NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr6:128883351

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365828360

rs_1360796756

2 SubmittersRCV000667526 RCV003736880

NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)

SNV
Germline

Chr6:129059829

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365828870

rs_1441933780

4 SubmittersRCV000673459 RCV000792306 RCV001784283 RCV005034271

NM_000426.4(LAMA2):c.1306+2T>G

SNV
Germline

Chr6:129165677

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365607381

rs_1326401124

3 SubmittersRCV000664685 RCV005034232

NM_000426.4(LAMA2):c.1467+2T>C

SNV
Germline

Chr6:129177868

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365607746

rs_1554234163

3 SubmittersRCV000669991 RCV000824157 RCV000991376

NM_000426.4(LAMA2):c.2096+1G>A

SNV
Unknown

Chr6:129252296

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365610648

rs_1554256965

2 SubmittersRCV000666723

NM_000426.4(LAMA2):c.2323-1G>A

SNV
Germline

Chr6:129270623

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365608973

rs_1278823424

2 SubmittersRCV000668996 RCV003736881

NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr6:129050088

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
LAMA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA147269490

rs_1018100729

5 SubmittersRCV000673365 RCV001208127 RCV001784282 RCV004723056

NM_000426.4(LAMA2):c.640-1G>A

SNV
Unknown

Chr6:129143900

Pathogenic

Merosin deficient congenital muscular dystrophy
Congenital Muscular Dystrophy, LAMA2-related

Criteria Provided
Single Submitter

CA365605864

rs_1296761337

2 SubmittersRCV000673568 RCV001796177

NM_000426.4(LAMA2):c.819+1G>A

SNV
Unknown

Chr6:129144081

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365606250

rs_1554226186

1 SubmittersRCV000672488

NM_000426.4(LAMA2):c.4717+1G>C

SNV
Germline

Chr6:129353358

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365618952

rs_1131691660

3 SubmittersRCV000670226 RCV002531246 RCV005034256

NM_000426.4(LAMA2):c.2451-2A>G

SNV
Germline

Chr6:129280059

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA3992954

rs_993196576

6 SubmittersRCV000665168 RCV001216650 RCV001091208 RCV002477479

NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)

SNV
Germline

Chr6:129300783

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993164

rs_145420388

7 SubmittersRCV000666604 RCV000685584 RCV001726299 RCV005034243

NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)

SNV
Germline

Chr6:129328299

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3993478

rs_775112258

7 SubmittersRCV000673723 RCV000687779 RCV001784287

NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)

SNV
Germline

Chr6:129353280

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Intellectual disability

Criteria Provided
Conflicting Classifications

CA3993615

rs_778106503

4 SubmittersRCV000667215 RCV000764627 RCV002532062 RCV005626144

NM_000426.4(LAMA2):c.5562+1G>A

SNV
Germline

Chr6:129401341

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3993915

rs_376014152

6 SubmittersRCV000668720 RCV001037130 RCV003144472 RCV003388592

NM_000426.4(LAMA2):c.5865+2T>G

SNV
Unknown

Chr6:129403961

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365617573

rs_1554290316

1 SubmittersRCV000671972

NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter)

SNV
Unknown

Chr6:129475394

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365625039

rs_1554303937

1 SubmittersRCV000674687

NM_000426.4(LAMA2):c.6429+1G>C

SNV
Unknown

Chr6:129445822

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365632408

rs_1262029350

1 SubmittersRCV000670249

NM_000426.4(LAMA2):c.8076-1G>A

SNV
Germline

Chr6:129492314

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365631258

rs_1554310169

3 SubmittersRCV000671554 RCV001855562

NM_000426.4(LAMA2):c.8548-2A>G

SNV
Unknown

Chr6:129505198

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA146924629

rs_369224209

2 SubmittersRCV000673268

NM_000426.4(LAMA2):c.8858-1G>A

SNV
Germline

Chr6:129512362

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365635987

rs_1554319117

3 SubmittersRCV000674842 RCV003768015 RCV005034280

NM_000426.4(LAMA2):c.9211+1G>A

SNV
Germline

Chr6:129514596

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365637169

rs_1554320318

2 SubmittersRCV000674405 RCV003574803

NM_000426.4(LAMA2):c.9212-2A>G

SNV
Unknown

Chr6:129516188

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365637175

rs_1554321125

1 SubmittersRCV000668325

NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)

SNV
Germline

Chr6:129098274

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3992352

rs_553221833

4 SubmittersRCV000666062 RCV000760397 RCV001855451

NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)

SNV
Germline

Chr6:129260790

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA146877952

rs_920771326

5 SubmittersRCV000669645 RCV001241324 RCV003133496 RCV003330885

NM_000426.4(LAMA2):c.2322+1G>C

SNV
Germline

Chr6:129267220

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146879481

rs_945091158

4 SubmittersRCV000669605 RCV000817774 RCV001784259 RCV005034253

NM_000426.4(LAMA2):c.3556-13T>A

SNV
Germline

Chr6:129315463

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3993301

rs_775278003

5 SubmittersRCV000671390 RCV001378737 RCV005034262 RCV005054240

NM_000426.4(LAMA2):c.4436+1G>C

SNV
Unknown

Chr6:129342468

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA3993539

rs_376430565

1 SubmittersRCV000672011

NM_000426.4(LAMA2):c.6429+1G>T

SNV
Germline

Chr6:129445822

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365632411

rs_1262029350

6 SubmittersRCV001041706 RCV001784278 RCV001810478 RCV003465520

NM_000426.4(LAMA2):c.6993-2A>C

SNV
Germline

Chr6:129464288

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3994416

rs_200669208

4 SubmittersRCV000666010 RCV001037634 RCV005034239 RCV006260966

NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val)

SNV
Germline

Chr6:129481320

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994624

rs_147430700

3 SubmittersRCV000678266 RCV001038706 RCV004985064

NM_000426.4(LAMA2):c.533C>T (p.Thr178Met)

SNV
Germline

Chr6:129098309

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992359

rs_148665727

4 SubmittersRCV000686051 RCV001560969

NM_000426.4(LAMA2):c.4960-2A>G

SNV
Germline

Chr6:129383120

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365628486

rs_1562512707

1 SubmittersRCV000684847

NM_000426.4(LAMA2):c.1028-1G>A

SNV
Germline

Chr6:129154504

Likely pathogenic

LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365606750

rs_1562281922

2 SubmittersRCV000685188 RCV005034289

NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys)

SNV
Germline

Chr6:129353339

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993634

rs_371388948

4 SubmittersRCV000697970 RCV001555511 RCV001333438 RCV002533504

NM_000426.4(LAMA2):c.6692G>A (p.Arg2231His)

SNV
Germline

Chr6:129454273

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994331

rs_142536231

3 SubmittersRCV000690990 RCV001152903 RCV005632631

NM_000426.4(LAMA2):c.7567C>G (p.Leu2523Val)

SNV
Germline

Chr6:129478808

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994599

rs_746077104

2 SubmittersRCV000685108 RCV006367229

NM_000426.4(LAMA2):c.8547+2T>C

SNV
Germline

Chr6:129503282

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365634514

rs_1450790879

1 SubmittersRCV000700827

NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)

SNV
Germline

Chr6:129512410

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Primary dilated cardiomyopathy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994961

rs_374888837

7 SubmittersRCV000686730 RCV001151352 RCV001293225 RCV002462020 RCV002493149 RCV002544760

NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)

SNV
Germline

Chr6:129514545

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Condition: not provided
Intellectual disability

Criteria Provided
Conflicting Classifications

CA3995048

rs_151049890

5 SubmittersRCV000703407 RCV000764637 RCV000998685 RCV001252046

NM_000426.4(LAMA2):c.149C>T (p.Ala50Val)

SNV
Germline

Chr6:129049954

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3992234

rs_191899712

5 SubmittersRCV000691120 RCV000754732 RCV001766480 RCV004586879

NM_000426.4(LAMA2):c.7899-1G>A

SNV
Germline

Chr6:129491900

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365630350

rs_1562614305

1 SubmittersRCV000699972

NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)

SNV
Germline

Chr6:129143989

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365606049

rs_1562273395

2 SubmittersRCV000709617 RCV003465646

NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr6:129059891

Pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365829009

rs_1562200866

2 SubmittersRCV000709619 RCV001861944

NM_000426.4(LAMA2):c.8075+1G>A

SNV
Unknown

Chr6:129492078

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA146918022

rs_1055407857

1 SubmittersRCV000754731

NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter)

SNV
Germline

Chr6:129316115

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
LAMA2-related disorder
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613754

rs_1562451730

7 SubmittersRCV000760889 RCV001224973 RCV004737998 RCV004569427 RCV005047018

NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)

SNV
Germline

Chr6:129316068

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613657

rs_1180309541

5 SubmittersRCV000798368 RCV000761500

NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)

SNV
Germline

Chr6:129154561

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3992518

rs_191912891

4 SubmittersRCV001263913 RCV004771485 RCV005407953

NM_000426.4(LAMA2):c.3412-2A>C

SNV
Germline

Chr6:129314653

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365612164

rs_1562449164

1 SubmittersRCV000785954

NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)

SNV
Germline

Chr6:129098185

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992332

rs_368349321

5 SubmittersRCV000796526 RCV001152374 RCV000844997 RCV002495049 RCV003133612

NM_000426.4(LAMA2):c.415G>A (p.Val139Met)

SNV
Germline

Chr6:129098191

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992335

rs_372414339

2 SubmittersRCV000811892 RCV003130064

NM_000426.4(LAMA2):c.831G>A (p.Ser277=)

SNV
Germline

Chr6:129146970

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3992447

rs_765960304

2 SubmittersRCV000812693 RCV001153656

NM_000426.4(LAMA2):c.1291A>T (p.Lys431Ter)

SNV
Germline

Chr6:129165660

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA365607347

rs_1583169165

2 SubmittersRCV000802606 RCV003489890

NM_000426.4(LAMA2):c.1369G>A (p.Ala457Thr)

SNV
Germline

Chr6:129177768

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992591

rs_542498391

3 SubmittersRCV000812320 RCV001816884 RCV004028767

NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)

SNV
Germline

Chr6:129190232

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
not specified
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992636

rs_143626559

8 SubmittersRCV000795194 RCV001332433 RCV001558111 RCV002234253 RCV002493454 RCV004027517

NM_000426.4(LAMA2):c.2153C>A (p.Ala718Glu)

SNV
Germline

Chr6:129260767

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992841

rs_373673505

2 SubmittersRCV000809620 RCV003132070

NM_000426.4(LAMA2):c.2513G>A (p.Gly838Glu)

SNV
Germline

Chr6:129280123

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3992969

rs_779877337

2 SubmittersRCV000817671 RCV006459947

NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter)

SNV
Germline

Chr6:129287869

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365609745

rs_1583421520

2 SubmittersRCV000819043 RCV005860157

NM_000426.4(LAMA2):c.2670A>C (p.Lys890Asn)

SNV
Germline

Chr6:129287979

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993025

rs_201625640

3 SubmittersRCV000793875 RCV003133602 RCV002535897

NM_000426.4(LAMA2):c.3363G>T (p.Glu1121Asp)

SNV
Germline

Chr6:129313049

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993237

rs_770971338

4 SubmittersRCV000817449 RCV004800604 RCV005633746

NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)

SNV
Germline

Chr6:129320554

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993443

rs_749372185

3 SubmittersRCV000823492 RCV002478931 RCV003130078

NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr)

SNV
Germline

Chr6:129349317

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993562

rs_372576669

4 SubmittersRCV000811965 RCV001731940 RCV003130065 RCV005367582

NM_000426.4(LAMA2):c.4484C>T (p.Thr1495Met)

SNV
Germline

Chr6:129349345

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993570

rs_147987573

2 SubmittersRCV000810045 RCV005652453

NM_000426.4(LAMA2):c.4675G>A (p.Gly1559Ser)

SNV
Germline

Chr6:129353315

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993627

rs_377630412

5 SubmittersRCV000821206 RCV001152679 RCV001508561

NM_000426.4(LAMA2):c.6094G>A (p.Ala2032Thr)

SNV
Germline

Chr6:129440824

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994109

rs_776279074

2 SubmittersRCV000812648 RCV003132079

NM_000426.4(LAMA2):c.6207C>A (p.Tyr2069Ter)

SNV
Germline

Chr6:129440937

Pathogenic

LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146917143

rs_143343647

4 SubmittersRCV000819633 RCV001784449 RCV005036212

NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)

SNV
Germline

Chr6:129454271

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365617315

rs_1583790201

2 SubmittersRCV000808345 RCV001264222

NM_000426.4(LAMA2):c.6883C>T (p.Arg2295Cys)

SNV
Germline

Chr6:129460215

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994389

rs_773802779

2 SubmittersRCV000797530 RCV003133616

NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His)

SNV
Germline

Chr6:129460216

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3994390

rs_142164767

6 SubmittersRCV000819344 RCV001154186 RCV001593014 RCV005407992

NM_000426.4(LAMA2):c.7075C>T (p.Pro2359Ser)

SNV
Germline

Chr6:129464372

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994437

rs_535022442

4 SubmittersRCV000792290 RCV002261205 RCV004027413

NM_000426.4(LAMA2):c.7207G>A (p.Asp2403Asn)

SNV
Germline

Chr6:129465196

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994484

rs_141476898

4 SubmittersRCV000797503 RCV003130046 RCV006367337

NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser)

SNV
Germline

Chr6:129481371

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Inborn genetic diseases
Condition: not provided
not specified
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3994636

rs_200341138

7 SubmittersRCV000824335 RCV001156680 RCV002538198 RCV003132111 RCV003323737 RCV005392460

NM_000426.4(LAMA2):c.7781G>A (p.Arg2594His)

SNV
Germline

Chr6:129486505

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994666

rs_368311592

2 SubmittersRCV000813643 RCV003130068

NM_000426.4(LAMA2):c.3038-7G>A

SNV
Germline

Chr6:129300729

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA3993155

rs_767841898

3 SubmittersRCV000797341 RCV005047069

NM_000426.4(LAMA2):c.6708-8C>G

SNV
Germline

Chr6:129456327

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915943632

rs_1562581016

2 SubmittersRCV000821441 RCV001766739

NM_000426.4(LAMA2):c.7750-2A>G

SNV
Germline

Chr6:129486472

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA3994662

rs_778539477

2 SubmittersRCV000850248 RCV003461293

NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter)

SNV
Unknown

Chr6:129165657

Pathogenic

Hypotonia
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365607339

rs_1583169151

2 SubmittersRCV000850320 RCV004569797

NM_000426.4(LAMA2):c.1755C>T (p.Ser585=)

SNV
Germline

Chr6:129192826

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA451935111

rs_1012171328

2 SubmittersRCV001333434 RCV001408159

NM_000426.4(LAMA2):c.2427T>C (p.Cys809=)

SNV
Germline

Chr6:129270728

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3992927

rs_778050587

2 SubmittersRCV000875862 RCV001156368

NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)

SNV
Germline

Chr6:129297832

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3993126

rs_200953311

7 SubmittersRCV000876327 RCV001081881 RCV001152571 RCV004530846

NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)

SNV
Germline

Chr6:129320636

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
not specified

Criteria Provided
Conflicting Classifications

CA3993455

rs_560139751

3 SubmittersRCV000872529 RCV001158143 RCV001844243

NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=)

SNV
Germline

Chr6:129366250

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993659

rs_754850670

3 SubmittersRCV001152680 RCV001491830 RCV003432849

NM_000426.4(LAMA2):c.5531G>A (p.Arg1844His)

SNV
Germline

Chr6:129401309

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993906

rs_150691000

3 SubmittersRCV000873582 RCV001545026

NM_000426.4(LAMA2):c.6506A>G (p.Asn2169Ser)

SNV
Germline

Chr6:129453064

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994285

rs_144845618

5 SubmittersRCV000875808 RCV001086147

NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=)

SNV
Germline

Chr6:129453125

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3994296

rs_748650667

3 SubmittersRCV000875641 RCV001091211 RCV001152898

NM_000426.4(LAMA2):c.7118C>T (p.Ser2373Leu)

SNV
Germline

Chr6:129464415

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994444

rs_758887080

4 SubmittersRCV000878744 RCV001081161 RCV002539271

NM_000426.4(LAMA2):c.8684C>G (p.Thr2895Ser)

SNV
Germline

Chr6:129505336

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994891

rs_200705442

4 SubmittersRCV000873824 RCV001156797 RCV002261234 RCV003243359

NM_000426.4(LAMA2):c.9060G>A (p.Leu3020=)

SNV
Germline

Chr6:129514444

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3995027

rs_368896579

2 SubmittersRCV000873642 RCV001289024

NM_000426.4(LAMA2):c.3153C>T (p.His1051=)

SNV
Germline

Chr6:129300851

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993179

rs_765377074

2 SubmittersRCV000952618 RCV003489980

NM_000426.4(LAMA2):c.4462G>A (p.Gly1488Arg)

SNV
Germline

Chr6:129349323

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993563

rs_200961385

3 SubmittersRCV000945558 RCV002293496

NM_000426.4(LAMA2):c.4772A>G (p.Gln1591Arg)

SNV
Germline

Chr6:129366273

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA3993666

rs_143986011

2 SubmittersRCV000952099 RCV001153955

NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)

SNV
Germline

Chr6:129486593

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3994680

rs_140658201

5 SubmittersRCV000951724 RCV001151226 RCV001585881 RCV004533654

NM_000426.4(LAMA2):c.4301C>T (p.Ser1434Leu)

SNV
Germline

Chr6:129328402

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993500

rs_368379507

3 SubmittersRCV000960753 RCV001085031

NM_000426.4(LAMA2):c.7153C>T (p.Leu2385=)

SNV
Germline

Chr6:129464450

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA451926038

rs_1281520681

2 SubmittersRCV000973879 RCV001154188

NM_000426.4(LAMA2):c.8763T>C (p.Asp2921=)

SNV
Germline

Chr6:129507548

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA146925636

rs_956998936

2 SubmittersRCV000944392 RCV001436394

NM_000426.4(LAMA2):c.909+7A>G

SNV
Germline

Chr6:129147055

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA915943625

rs_1583133494

2 SubmittersRCV000935997 RCV005870979

NM_000426.4(LAMA2):c.4436+8T>C

SNV
Germline

Chr6:129342475

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993540

rs_192650285

3 SubmittersRCV000951028 RCV001158147 RCV001288667

NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg)

SNV
Germline

Chr6:129312921

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365611762

rs_1583469739

3 SubmittersRCV000987769 RCV001858676

NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)

SNV
Unknown

Chr6:129369967

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365624545

rs_748541803

1 SubmittersRCV000987773

NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)

SNV
Germline

Chr6:129440926

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365629422

rs_1583756552

2 SubmittersRCV000987775 RCV003736951

NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys)

SNV
Germline

Chr6:129270626

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992913

rs_139351727

3 SubmittersRCV000992261 RCV001205656

NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter)

SNV
Germline

Chr6:129300870

Likely pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365611604

rs_1583447808

2 SubmittersRCV000998683 RCV001263637

NM_000426.4(LAMA2):c.7024C>T (p.Gln2342Ter)

SNV
Germline

Chr6:129464321

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365620036

rs_1583813573

1 SubmittersRCV001008706

NM_000426.4(LAMA2):c.902C>T (p.Ala301Val)

SNV
Germline

Chr6:129147041

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
LAMA2-related disorder

Criteria Provided
Conflicting Classifications

CA3992456

rs_144053918

4 SubmittersRCV001068322 RCV003130147 RCV004738153

NM_000426.4(LAMA2):c.2009G>A (p.Arg670His)

SNV
Germline

Chr6:129252208

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992799

rs_149305108

4 SubmittersRCV001056882 RCV001507678

NM_000426.4(LAMA2):c.3079A>G (p.Thr1027Ala)

SNV
Germline

Chr6:129300777

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993162

rs_750128766

2 SubmittersRCV001048403 RCV004986761

NM_000426.4(LAMA2):c.5059C>T (p.Arg1687Trp)

SNV
Germline

Chr6:129383221

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993758

rs_754518146

2 SubmittersRCV001058668 RCV003130137

NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)

SNV
Germline

Chr6:129454180

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994316

rs_779326725

6 SubmittersRCV001063289 RCV001810493 RCV001352917 RCV001553634 RCV001815467

NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)

SNV
Germline

Chr6:129464337

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Primary dilated cardiomyopathy
Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994424

rs_529981007

5 SubmittersRCV001042574 RCV001293066 RCV001726422 RCV004720290

NM_000426.4(LAMA2):c.7044T>G (p.Tyr2348Ter)

SNV
Germline

Chr6:129464341

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA146891295

rs_866663584

1 SubmittersRCV001041823

NM_000426.4(LAMA2):c.7073A>G (p.Tyr2358Cys)

SNV
Germline

Chr6:129464370

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994435

rs_773157433

2 SubmittersRCV001065325 RCV001509284

NM_000426.4(LAMA2):c.7537G>A (p.Asp2513Asn)

SNV
Germline

Chr6:129478778

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994596

rs_749794799

3 SubmittersRCV001055043 RCV003130132 RCV006367603

NM_000426.4(LAMA2):c.8575G>A (p.Gly2859Arg)

SNV
Germline

Chr6:129505227

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994869

rs_755908120

2 SubmittersRCV001069315 RCV005367710

NM_000426.4(LAMA2):c.9008A>G (p.Asn3003Ser)

SNV
Germline

Chr6:129514392

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3995013

rs_747619612

2 SubmittersRCV001050685 RCV002553230

NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)

SNV
Germline

Chr6:129514398

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3995015

rs_75048006

5 SubmittersRCV001055472 RCV001806002 RCV002482001

NM_000426.4(LAMA2):c.1027+3A>G

SNV
Germline

Chr6:129149099

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992495

rs_772796883

2 SubmittersRCV001061757 RCV002225789

NM_000426.4(LAMA2):c.112+2T>C

SNV
Germline

Chr6:128883359

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365828379

rs_1211322465

2 SubmittersRCV001053761 RCV005866772

NM_000426.4(LAMA2):c.4312-1G>C

SNV
Germline

Chr6:129342342

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365615057

rs_1776314873

1 SubmittersRCV001042960

NM_000426.4(LAMA2):c.5968+1G>A

SNV
Germline

Chr6:129427855

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365624087

rs_1207051921

1 SubmittersRCV001053928

NM_000426.4(LAMA2):c.13G>T (p.Ala5Ser)

SNV
Germline

Chr6:128883258

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992191

rs_367622987

4 SubmittersRCV001090686 RCV002554817 RCV005660038

NM_000426.4(LAMA2):c.112+1G>C

SNV
Germline

Chr6:128883358

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365828375

rs_398123367

1 SubmittersRCV001090687

NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter)

SNV
Germline

Chr6:129505341

Pathogenic

Condition: not provided
Abnormality of the musculature
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365635035

rs_750328754

3 SubmittersRCV001091212 RCV001814272 RCV002554828

NM_000426.4(LAMA2):c.519C>T (p.Asp173=)

SNV
Germline

Chr6:129098295

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA451959447

rs_1256347636

2 SubmittersRCV001152375 RCV001461816

NM_000426.4(LAMA2):c.718T>C (p.Tyr240His)

SNV
Germline

Chr6:129143979

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3992410

rs_3778142

4 SubmittersRCV001152379 RCV001245455 RCV006372161 RCV006455466

NM_000426.4(LAMA2):c.1615G>C (p.Asp539His)

SNV
Germline

Chr6:129192686

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992678

rs_764236220

2 SubmittersRCV001157935 RCV002558389

NM_000426.4(LAMA2):c.3203T>C (p.Leu1068Ser)

SNV
Germline

Chr6:129312889

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993208

rs_752736343

4 SubmittersRCV001152572 RCV001245805 RCV003480974 RCV004032803

NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg)

SNV
Germline

Chr6:129353232

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993605

rs_760292213

3 SubmittersRCV001152677 RCV002264204 RCV002559473

NM_000426.4(LAMA2):c.5461G>A (p.Val1821Ile)

SNV
Germline

Chr6:129401239

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993889

rs_201172088

3 SubmittersRCV001158269 RCV002557353 RCV005359883

NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=)

SNV
Germline

Chr6:129401331

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993911

rs_781341719

3 SubmittersRCV001152795 RCV001437305 RCV002264205

NM_000426.4(LAMA2):c.6598C>T (p.Arg2200Cys)

SNV
Germline

Chr6:129454179

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994315

rs_568648664

5 SubmittersRCV001152899 RCV002298876 RCV002557293

NM_000426.4(LAMA2):c.6635C>G (p.Ser2212Cys)

SNV
Germline

Chr6:129454216

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994320

rs_746883617

3 SubmittersRCV001152901 RCV003574848 RCV003130168

NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)

SNV
Germline

Chr6:129465220

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994489

rs_199814707

6 SubmittersRCV001155018 RCV001242334 RCV001509286 RCV001329267

NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala)

SNV
Germline

Chr6:129491987

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
Condition: not provided
LAMA2-related muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3994714

rs_138732723

7 SubmittersRCV001154296 RCV001509289 RCV002558336 RCV004526085

NM_000426.4(LAMA2):c.8205C>T (p.Pro2735=)

SNV
Germline

Chr6:129492444

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994759

rs_559453268

2 SubmittersRCV001154298 RCV001486306

NM_000426.4(LAMA2):c.8419C>G (p.Arg2807Gly)

SNV
Germline

Chr6:129503152

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994831

rs_754671210

3 SubmittersRCV001155133 RCV002559491 RCV003246733

NM_000426.4(LAMA2):c.8760C>T (p.Ala2920=)

SNV
Germline

Chr6:129507545

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994915

rs_781063563

2 SubmittersRCV001156799 RCV001453946

NM_000426.4(LAMA2):c.9171A>C (p.Ser3057=)

SNV
Germline

Chr6:129514555

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA451936321

rs_1293824666

2 SubmittersRCV001154394 RCV001447446

NM_000426.4(LAMA2):c.6269-12A>C

SNV
Germline

Chr6:129443051

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994194

rs_749837829

2 SubmittersRCV001156579 RCV002070927

NM_000426.4(LAMA2):c.7898+12A>G

SNV
Germline

Chr6:129486634

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3994684

rs_572960610

3 SubmittersRCV001151227 RCV002557260 RCV002505728

NM_000426.4(LAMA2):c.8547+14G>A

SNV
Germline

Chr6:129503294

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994850

rs_755995964

2 SubmittersRCV001155135 RCV003737005

NM_000426.4(LAMA2):c.6671T>C (p.Ile2224Thr)

SNV
Germline

Chr6:129454252

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994327

rs_775847695

2 SubmittersRCV001172177 RCV001873589

NM_000426.4(LAMA2):c.3806C>T (p.Thr1269Ile)

SNV
Germline

Chr6:129315832

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993367

rs_375051351

2 SubmittersRCV001219321 RCV002562995

NM_000426.4(LAMA2):c.3928G>T (p.Glu1310Ter)

SNV
Germline

Chr6:129316041

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613593

rs_755643402

3 SubmittersRCV001219254 RCV004570502

NM_000426.4(LAMA2):c.4685A>G (p.His1562Arg)

SNV
Germline

Chr6:129353325

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993628

rs_767903280

4 SubmittersRCV001222691 RCV003163723 RCV003353219

NM_000426.4(LAMA2):c.5512A>G (p.Ile1838Val)

SNV
Germline

Chr6:129401290

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993900

rs_771138153

2 SubmittersRCV001214591 RCV005589985

NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter)

SNV
Germline

Chr6:129427796

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365623955

rs_1781395670

2 SubmittersRCV001214977 RCV005036477

NM_000426.4(LAMA2):c.327G>A (p.Trp109Ter)

SNV
Germline

Chr6:129059827

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365828864

rs_1788769048

1 SubmittersRCV001206890

NM_000426.4(LAMA2):c.1535G>A (p.Trp512Ter)

SNV
Germline

Chr6:129190272

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607910

rs_1781452558

1 SubmittersRCV001208411

NM_000426.4(LAMA2):c.2586T>A (p.Cys862Ter)

SNV
Germline

Chr6:129287895

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609792

rs_1789390592

1 SubmittersRCV001207012

NM_000426.4(LAMA2):c.5296G>T (p.Glu1766Ter)

SNV
Germline

Chr6:129393106

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365614684

rs_1231277831

1 SubmittersRCV001201838

NM_000426.4(LAMA2):c.5968G>T (p.Glu1990Ter)

SNV
Germline

Chr6:129427854

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365624084

rs_1376412082

1 SubmittersRCV001214183

NM_000426.4(LAMA2):c.2323-1G>T

SNV
Germline

Chr6:129270623

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365608975

rs_1278823424

2 SubmittersRCV001223090 RCV003469386

NM_000426.4(LAMA2):c.5445+1G>A

SNV
Germline

Chr6:129393256

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365615019

rs_1779423047

2 SubmittersRCV001222492 RCV003469383

NM_000426.4(LAMA2):c.5969-1G>C

SNV
Germline

Chr6:129438645

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365627418

rs_1781951075

1 SubmittersRCV001224840

NM_000426.4(LAMA2):c.1326T>G (p.Cys442Trp)

SNV
Germline

Chr6:129177725

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607425

rs_1226441435

1 SubmittersRCV001236837

NM_000426.4(LAMA2):c.5960A>C (p.Asp1987Ala)

SNV
Germline

Chr6:129427846

Conflicting classifications of pathogenicity

Inborn genetic diseases
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994039

rs_775912205

2 SubmittersRCV004639513 RCV001232230

NM_000426.4(LAMA2):c.2132A>G (p.Tyr711Cys)

SNV
Germline

Chr6:129260746

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992838

rs_201122410

4 SubmittersRCV001246076 RCV002261325

NM_000426.4(LAMA2):c.3616A>G (p.Thr1206Ala)

SNV
Germline

Chr6:129315536

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993319

rs_190362395

3 SubmittersRCV001242640 RCV002568554 RCV006279495

NM_000426.4(LAMA2):c.4495C>T (p.Arg1499Trp)

SNV
Germline

Chr6:129349356

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
LAMA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993574

rs_564113854

3 SubmittersRCV001239248 RCV004538497 RCV005633983

NM_000426.4(LAMA2):c.4696C>T (p.Arg1566Cys)

SNV
Germline

Chr6:129353336

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993632

rs_777964192

2 SubmittersRCV001243114 RCV003132338

NM_000426.4(LAMA2):c.4768G>A (p.Glu1590Lys)

SNV
Germline

Chr6:129366269

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993664

rs_143206604

4 SubmittersRCV001243185 RCV003130222 RCV004034742

NM_000426.4(LAMA2):c.5377G>A (p.Ala1793Thr)

SNV
Germline

Chr6:129393187

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Rare genetic intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993858

rs_370181941

3 SubmittersRCV001245522 RCV001257032 RCV004629519

NM_000426.4(LAMA2):c.6647G>A (p.Arg2216His)

SNV
Germline

Chr6:129454228

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3994321

rs_371191809

4 SubmittersRCV001238985 RCV003130212 RCV002563932 RCV005236715

NM_000426.4(LAMA2):c.8918C>A (p.Thr2973Lys)

SNV
Germline

Chr6:129512423

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994968

rs_145842163

3 SubmittersRCV001248412 RCV001509291

NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val)

SNV
Germline

Chr6:129516240

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3995088

rs_768834542

5 SubmittersRCV001243710 RCV002564072 RCV003130223

NM_000426.4(LAMA2):c.820-1G>A

SNV
Germline

Chr6:129146958

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365606260

rs_1370654793

2 SubmittersRCV003469444 RCV001237683

NM_000426.4(LAMA2):c.6086-2A>C

SNV
Germline

Chr6:129440814

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365628743

rs_759055212

1 SubmittersRCV001235926

NM_000426.4(LAMA2):c.6268+1G>T

SNV
Germline

Chr6:129440999

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365629807

rs_1782086875

1 SubmittersRCV001229482

NM_000426.4(LAMA2):c.7440-1G>A

SNV
Germline

Chr6:129475389

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365624984

rs_1244029486

1 SubmittersRCV001226470

NM_000426.4(LAMA2):c.8703+2T>G

SNV
Germline

Chr6:129505357

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365635086

rs_1785975460

1 SubmittersRCV001232322

NM_000426.4(LAMA2):c.5562+5G>A

SNV
Germline

Chr6:129401345

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1139659331

rs_771046502

2 SubmittersRCV001243340

NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val)

SNV
Germline

Chr6:129288044

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993034

rs_376580266

2 SubmittersRCV001293114 RCV002568758

NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter)

SNV
Unknown

Chr6:129049995

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365828548

rs_1231305572

1 SubmittersRCV001263618

NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter)

SNV
Unknown

Chr6:129050003

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA147269459

rs_1042843028

1 SubmittersRCV001263619

NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter)

SNV
Unknown

Chr6:129098200

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365829099

rs_1775300950

1 SubmittersRCV001263620

NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)

SNV
Germline

Chr6:129098280

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA147280362

rs_1008335405

2 SubmittersRCV001263621 RCV001390189

NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter)

SNV
Unknown

Chr6:129098345

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365829397

rs_1775311864

1 SubmittersRCV001263622

NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter)

SNV
Unknown

Chr6:129098378

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365829473

rs_1775313883

1 SubmittersRCV001263906

NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter)

SNV
Unknown

Chr6:129098413

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365829554

rs_1775315900

1 SubmittersRCV001263907

NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter)

SNV
Unknown

Chr6:129143952

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365605978

rs_1778273068

1 SubmittersRCV001263908

NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter)

SNV
Unknown

Chr6:129144042

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365606167

rs_781316719

1 SubmittersRCV001263909

NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter)

SNV
Unknown

Chr6:129144051

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365606188

rs_1778283565

1 SubmittersRCV001263910

NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter)

SNV
Unknown

Chr6:129154528

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365606806

rs_1778991422

1 SubmittersRCV001263911

NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter)

SNV
Unknown

Chr6:129154542

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365606841

rs_1436470033

1 SubmittersRCV001263912

NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter)

SNV
Unknown

Chr6:129165647

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365607315

rs_1779703136

1 SubmittersRCV001264073

NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter)

SNV
Unknown

Chr6:129177863

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365607734

rs_1780700010

1 SubmittersRCV001264074

NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter)

SNV
Unknown

Chr6:129190297

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365607970

rs_1781455687

1 SubmittersRCV001264075

NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter)

SNV
Unknown

Chr6:129192683

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365608095

rs_1781592001

1 SubmittersRCV001264076

NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter)

SNV
Unknown

Chr6:129192823

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365608389

rs_1781606569

1 SubmittersRCV001264077

NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter)

SNV
Unknown

Chr6:129250160

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609563

rs_1786068382

1 SubmittersRCV001264078

NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter)

SNV
Unknown

Chr6:129250163

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609571

rs_1786068836

1 SubmittersRCV001264079

NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter)

SNV
Unknown

Chr6:129252141

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365610295

rs_1786301728

1 SubmittersRCV001264080

NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter)

SNV
Unknown

Chr6:129252243

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365610527

rs_1786309995

1 SubmittersRCV001264199

NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter)

SNV
Unknown

Chr6:129260730

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365608511

rs_1787059737

1 SubmittersRCV001264200

NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter)

SNV
Unknown

Chr6:129270629

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365608989

rs_1787862380

1 SubmittersRCV001264201

NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter)

SNV
Unknown

Chr6:129287866

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609737

rs_1789386860

1 SubmittersRCV001264202

NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter)

SNV
Unknown

Chr6:129287896

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609795

rs_897845923

1 SubmittersRCV001264203

NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)

SNV
Germline

Chr6:129287967

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA365609957

rs_1789395190

3 SubmittersRCV001264204 RCV001880076 RCV005634009

NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter)

SNV
Unknown

Chr6:129288012

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365610062

rs_1789398455

1 SubmittersRCV001264205

NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter)

SNV
Unknown

Chr6:129288019

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365610097

rs_1789399141

1 SubmittersRCV001264206

NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter)

SNV
Unknown

Chr6:129288028

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365610143

rs_1789399872

1 SubmittersRCV001263631

NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter)

SNV
Unknown

Chr6:129297778

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365611103

rs_1773282962

1 SubmittersRCV001263632

NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter)

SNV
Unknown

Chr6:129297785

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365611121

rs_1773283278

1 SubmittersRCV001263633

NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter)

SNV
Unknown

Chr6:129297796

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365611149

rs_1187391940

1 SubmittersRCV001263634

NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter)

SNV
Unknown

Chr6:129297847

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993131

rs_752094219

2 SubmittersRCV001263635 RCV003469490

NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter)

SNV
Unknown

Chr6:129300821

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365611496

rs_1773502803

1 SubmittersRCV001263636

NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter)

SNV
Unknown

Chr6:129312929

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365611779

rs_944013929

1 SubmittersRCV001263638

NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter)

SNV
Unknown

Chr6:129312956

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365611841

rs_1774323015

1 SubmittersRCV001263922

NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter)

SNV
Unknown

Chr6:129314687

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365612244

rs_1383756739

1 SubmittersRCV001263923

NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter)

SNV
Unknown

Chr6:129314697

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365612262

rs_1774465781

1 SubmittersRCV001263924

NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter)

SNV
Unknown

Chr6:129315624

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365613074

rs_1774541313

1 SubmittersRCV001263925

NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter)

SNV
Unknown

Chr6:129320619

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365612830

rs_1774908660

1 SubmittersRCV001263926

NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter)

SNV
Unknown

Chr6:129320625

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365612874

rs_1774908820

1 SubmittersRCV001263927

NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter)

SNV
Unknown

Chr6:129342409

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365615347

rs_1776319116

1 SubmittersRCV001263928

NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter)

SNV
Unknown

Chr6:129349320

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365617347

rs_1776730034

1 SubmittersRCV001263929

NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter)

SNV
Unknown

Chr6:129353201

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365618502

rs_1776953529

1 SubmittersRCV001264089

NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter)

SNV
Unknown

Chr6:129353213

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365618528

rs_1776953853

1 SubmittersRCV001264090

NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter)

SNV
Unknown

Chr6:129353241

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365618592

rs_917205971

1 SubmittersRCV001264091

NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter)

SNV
Unknown

Chr6:129366338

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365622955

rs_1247084547

1 SubmittersRCV001264092

NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)

SNV
Germline

Chr6:129366359

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993685

rs_762342110

2 SubmittersRCV001264093 RCV006466172

NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter)

SNV
Unknown

Chr6:129383155

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365628563

rs_373997222

1 SubmittersRCV001264094

NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)

SNV
Germline

Chr6:129383200

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365628738

rs_1778794887

2 SubmittersRCV001264095 RCV001880072

NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter)

SNV
Unknown

Chr6:129391511

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365613937

rs_1779318396

1 SubmittersRCV001264096

NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter)

SNV
Unknown

Chr6:129391574

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365614091

rs_1779323338

1 SubmittersRCV001264215

NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter)

SNV
Unknown

Chr6:129402339

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365616041

rs_1165626901

1 SubmittersRCV001264216

NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter)

SNV
Unknown

Chr6:129402435

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365616443

rs_1462522184

1 SubmittersRCV001264217

NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter)

SNV
Unknown

Chr6:129427830

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365624030

rs_1781398399

1 SubmittersRCV001264218

NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter)

SNV
Unknown

Chr6:129440992

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365629773

rs_1782086229

1 SubmittersRCV001264219

NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)

SNV
Germline

Chr6:129445697

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365631703

rs_1782333085

2 SubmittersRCV001264220 RCV003574869

NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter)

SNV
Unknown

Chr6:129453007

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365616397

rs_1782761474

1 SubmittersRCV001264221

NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter)

SNV
Unknown

Chr6:129465255

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365622099

rs_1783482812

1 SubmittersRCV001263647

NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)

SNV
Germline

Chr6:129465272

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3994494

rs_776104105

3 SubmittersRCV001263648 RCV001780214 RCV003462839

NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter)

SNV
Unknown

Chr6:129473252

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365624213

rs_1377818460

1 SubmittersRCV001263649

NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter)

SNV
Unknown

Chr6:129491914

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365630409

rs_1784882494

1 SubmittersRCV001263650

NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter)

SNV
Unknown

Chr6:129492010

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365630809

rs_1784888496

1 SubmittersRCV001263651

NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)

SNV
Germline

Chr6:129492427

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365631593

rs_1784919273

3 SubmittersRCV001263652 RCV002537661

NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)

SNV
Unknown

Chr6:129503269

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365634481

rs_1463264889

2 SubmittersRCV001263653

NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)

SNV
Germline

Chr6:129507555

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146925639

rs_1034133545

2 SubmittersRCV001263654 RCV001880064

NM_000426.4(LAMA2):c.8244+1G>T

SNV
Germline

Chr6:129492484

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA365632499

rs_749522728

1 SubmittersRCV001267181

NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)

SNV
Germline

Chr6:129267114

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided

Criteria Provided
Single Submitter

CA365608739

rs_192317605

2 SubmittersRCV001269412 RCV003490162

NM_000426.4(LAMA2):c.1546G>C (p.Asp516His)

SNV
Germline

Chr6:129190283

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992648

rs_141000358

2 SubmittersRCV001302921 RCV005634034

NM_000426.4(LAMA2):c.5122G>A (p.Glu1708Lys)

SNV
Germline

Chr6:129391541

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365613996

rs_1485209355

2 SubmittersRCV001304457 RCV002539552

NM_000426.4(LAMA2):c.236G>A (p.Arg79Lys)

SNV
Germline

Chr6:129050041

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992249

rs_760219197

4 SubmittersRCV001319722 RCV004706089

NM_000426.4(LAMA2):c.4860G>A (p.Lys1620=)

SNV
Germline

Chr6:129366361

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA451930586

rs_1256865383

2 SubmittersRCV001316731 RCV002462927

NM_000426.4(LAMA2):c.3956G>A (p.Arg1319Gln)

SNV
Germline

Chr6:129316069

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993401

rs_780356271

3 SubmittersRCV001968093 RCV003134280 RCV004546690

NM_000426.4(LAMA2):c.7898+1G>A

SNV
Germline

Chr6:129486623

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365629586

rs_1784599832

3 SubmittersRCV001329269 RCV003574877

NM_000426.4(LAMA2):c.1969G>T (p.Glu657Ter)

SNV
Germline

Chr6:129252168

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610358

rs_1786303769

1 SubmittersRCV003814848

NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)

SNV
Germline

Chr6:129312872

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365611650

rs_1774316033

1 SubmittersRCV001333436

NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=)

SNV
Germline

Chr6:129328289

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Conflicting Classifications

CA3993477

rs_369076029

2 SubmittersRCV001343385 RCV002486392

NM_000426.4(LAMA2):c.6236C>T (p.Thr2079Met)

SNV
Germline

Chr6:129440966

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994144

rs_200928844

4 SubmittersRCV001347673 RCV001773695

NM_000426.4(LAMA2):c.666A>C (p.Arg222Ser)

SNV
Germline

Chr6:129143927

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA365605927

rs_2114958704

2 SubmittersRCV001372201 RCV003130511

NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe)

SNV
Germline

Chr6:129478727

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146903395

rs_970365005

4 SubmittersRCV001365602 RCV002504600 RCV003132476

NM_000426.4(LAMA2):c.1884+2T>C

SNV
Germline

Chr6:129250215

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146918284

rs_968447029

3 SubmittersRCV001378648 RCV004570931

NM_000426.4(LAMA2):c.3037+1G>T

SNV
Germline

Chr6:129297866

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365611300

rs_1773291512

2 SubmittersRCV001377163 RCV003469623

NM_000426.4(LAMA2):c.3411+1G>A

SNV
Germline

Chr6:129313098

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365612158

rs_2114494623

1 SubmittersRCV001378215

NM_000426.4(LAMA2):c.4860+2T>C

SNV
Germline

Chr6:129366363

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365623112

rs_2114620232

1 SubmittersRCV001377274

NM_000426.4(LAMA2):c.5727-2A>G

SNV
Germline

Chr6:129403819

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3993977

rs_148433965

1 SubmittersRCV001377445

NM_000426.4(LAMA2):c.7440-2A>G

SNV
Germline

Chr6:129475388

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365624976

rs_1443920683

1 SubmittersRCV001379914

NM_000426.4(LAMA2):c.8857+1G>A

SNV
Germline

Chr6:129507643

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365635766

rs_112827330

2 SubmittersRCV001379341 RCV004570934

NM_000426.4(LAMA2):c.910-1G>A

SNV
Germline

Chr6:129148978

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365606469

rs_2114967780

1 SubmittersRCV001381768

NM_000426.4(LAMA2):c.910-1G>T

SNV
Germline

Chr6:129148978

Pathogenic

LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365606471

rs_2114967780

3 SubmittersRCV001390272 RCV001780377 RCV005867011

NM_000426.4(LAMA2):c.1824T>G (p.Tyr608Ter)

SNV
Germline

Chr6:129250153

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609545

rs_2114276382

1 SubmittersRCV001384393

NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter)

SNV
Germline

Chr6:129250181

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365609615

rs_1786070922

2 SubmittersRCV001390679 RCV003469779

NM_000426.4(LAMA2):c.2042T>A (p.Leu681Ter)

SNV
Germline

Chr6:129252241

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610521

rs_1786309286

1 SubmittersRCV001385009

NM_000426.4(LAMA2):c.2500G>T (p.Gly834Ter)

SNV
Germline

Chr6:129280110

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609377

rs_2114391000

1 SubmittersRCV001381082

NM_000426.4(LAMA2):c.3300C>A (p.Tyr1100Ter)

SNV
Germline

Chr6:129312986

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365611908

rs_1583469993

1 SubmittersRCV001386377

NM_000426.4(LAMA2):c.4312-2A>G

SNV
Germline

Chr6:129342341

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365615051

rs_2114568240

1 SubmittersRCV001389233

NM_000426.4(LAMA2):c.4368T>A (p.Tyr1456Ter)

SNV
Germline

Chr6:129342399

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365615304

rs_758048573

1 SubmittersRCV001380822

NM_000426.4(LAMA2):c.4523G>C (p.Arg1508Thr)

SNV
Germline

Chr6:129349384

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365617605

rs_770084568

1 SubmittersRCV001381201

NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter)

SNV
Germline

Chr6:129402363

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365616143

rs_1276300668

3 SubmittersRCV001385712 RCV003473960 RCV005038196

NM_000426.4(LAMA2):c.6993-2A>G

SNV
Germline

Chr6:129464288

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365619809

rs_200669208

1 SubmittersRCV001382670

NM_000426.4(LAMA2):c.7875C>T (p.Ser2625=)

SNV
Germline

Chr6:129486599

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994681

rs_144448521

2 SubmittersRCV001411387 RCV003132496

NM_000426.4(LAMA2):c.2463G>A (p.Thr821=)

SNV
Germline

Chr6:129280073

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992957

rs_761420475

2 SubmittersRCV001426603 RCV005635159

NM_000426.4(LAMA2):c.708C>T (p.Thr236=)

SNV
Germline

Chr6:129143969

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146883364

rs_925968707

2 SubmittersRCV001477763 RCV003130525

NM_000426.4(LAMA2):c.6990C>G (p.Val2330=)

SNV
Germline

Chr6:129460322

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146888618

rs_977540447

2 SubmittersRCV001469292 RCV003132501

NM_000426.4(LAMA2):c.1106G>A (p.Arg369His)

SNV
Germline

Chr6:129154583

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992522

rs_367649718

3 SubmittersRCV001494268 RCV002563292 RCV003132505

NM_000426.4(LAMA2):c.1722C>A (p.Ala574=)

SNV
Germline

Chr6:129192793

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146880655

rs_777308198

2 SubmittersRCV001505643 RCV003132507

NM_000426.4(LAMA2):c.4650T>A (p.Pro1550=)

SNV
Germline

Chr6:129353290

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993618

rs_545186322

2 SubmittersRCV001480026 RCV001762695

NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter)

SNV
Germline

Chr6:129383158

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365628571

rs_2114654019

2 SubmittersRCV001527673 RCV003581794

NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter)

SNV
Germline

Chr6:129050055

Pathogenic

LAMA2-related muscular dystrophy
Abnormality of the musculature
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA147269476

rs_868019991

3 SubmittersRCV002568237 RCV001814340 RCV003470856

NM_000426.4(LAMA2):c.4318C>T (p.Gln1440Ter)

SNV
Germline

Chr6:129342349

Pathogenic

Abnormality of the musculature

Criteria Provided
Single Submitter

CA365615092

rs_2114568250

1 SubmittersRCV001814464

NM_000426.4(LAMA2):c.4707G>A (p.Trp1569Ter)

SNV
Germline

Chr6:129353347

Likely pathogenic

Abnormality of the musculature

Criteria Provided
Single Submitter

CA365618897

rs_2114593671

1 SubmittersRCV001814351

NM_000426.4(LAMA2):c.4818T>G (p.Tyr1606Ter)

SNV
Germline

Chr6:129366319

Likely pathogenic

Abnormality of the musculature

Criteria Provided
Single Submitter

CA365622846

rs_1217989194

1 SubmittersRCV001814533

NM_000426.4(LAMA2):c.6430-2A>G

SNV
Germline

Chr6:129452986

Likely pathogenic

Abnormality of the musculature
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365616310

rs_2114788484

2 SubmittersRCV001814344 RCV003574880

NM_000426.4(LAMA2):c.6548T>G (p.Leu2183Arg)

SNV
Germline

Chr6:129453106

Likely pathogenic

Abnormality of the musculature

Criteria Provided
Single Submitter

CA365616745

rs_2114788785

1 SubmittersRCV001814466

NM_000426.4(LAMA2):c.7071G>A (p.Trp2357Ter)

SNV
Germline

Chr6:129464368

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365620472

rs_1276312596

3 SubmittersRCV001592431 RCV003574882

NM_000426.4(LAMA2):c.4058+1G>A

SNV
Germline

Chr6:129316172

Pathogenic

Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613880

rs_2114503272

3 SubmittersRCV001725871 RCV001780436 RCV002543894

NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp)

SNV
Germline

Chr6:129098218

Conflicting classifications of pathogenicity

Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992340

rs_752485547

3 SubmittersRCV001733795 RCV002032741

NM_000426.4(LAMA2):c.8261A>G (p.Glu2754Gly)

SNV
Germline

Chr6:129502675

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994785

rs_139455685

2 SubmittersRCV001756708 RCV002032777

NM_000426.4(LAMA2):c.521C>T (p.Thr174Met)

SNV
Germline

Chr6:129098297

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992357

rs_752992990

3 SubmittersRCV001752263 RCV002543970 RCV004796655

NM_000426.4(LAMA2):c.3932G>A (p.Trp1311Ter)

SNV
Germline

Chr6:129316045

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613602

rs_2114502893

2 SubmittersRCV001783528 RCV002034568

NM_000426.4(LAMA2):c.6310C>T (p.Gln2104Ter)

SNV
Germline

Chr6:129445702

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365631732

rs_2114774712

1 SubmittersRCV001783532

NM_000426.4(LAMA2):c.639+2T>A

SNV
Germline

Chr6:129098417

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365829563

rs_1775316198

1 SubmittersRCV001783535

NM_000426.4(LAMA2):c.4708G>T (p.Glu1570Ter)

SNV
Germline

Chr6:129353348

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365618905

rs_1218997631

1 SubmittersRCV001783539

NM_000426.4(LAMA2):c.2595C>A (p.Cys865Ter)

SNV
Germline

Chr6:129287904

Pathogenic

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365609813

rs_1789391655

2 SubmittersRCV001783540 RCV003574884

NM_000426.4(LAMA2):c.7572+2T>C

SNV
Germline

Chr6:129478815

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365627075

rs_2114834693

1 SubmittersRCV001782367

NM_000426.4(LAMA2):c.3925-2A>G

SNV
Germline

Chr6:129316036

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3993396

rs_752183158

1 SubmittersRCV001782368

NM_000426.4(LAMA2):c.8245-1G>C

SNV
Germline

Chr6:129502658

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365633554

rs_2114888603

1 SubmittersRCV001816441

NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu)

SNV
Germline

Chr6:129049981

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992240

rs_748303070

2 SubmittersRCV001823681

NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter)

SNV
Germline

Chr6:129516201

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA365637206

rs_771012835

2 SubmittersRCV001823682 RCV001869822

NM_000426.4(LAMA2):c.6269-2A>C

SNV
Germline

Chr6:129443061

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365630298

rs_2114770006

1 SubmittersRCV002035905

NM_000426.4(LAMA2):c.4757T>A (p.Leu1586Ter)

SNV
Germline

Chr6:129366258

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365622655

rs_2114619908

1 SubmittersRCV001920414

NM_000426.4(LAMA2):c.6806C>T (p.Thr2269Met)

SNV
Germline

Chr6:129456433

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994367

rs_150237160

3 SubmittersRCV001943221 RCV003134234 RCV005652772

NM_000426.4(LAMA2):c.7070G>A (p.Trp2357Ter)

SNV
Germline

Chr6:129464367

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3994434

rs_761714859

1 SubmittersRCV001880540

NM_000426.4(LAMA2):c.8644G>A (p.Val2882Met)

SNV
Germline

Chr6:129505296

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994884

rs_138024644

3 SubmittersRCV001949202 RCV005635349

NM_000426.4(LAMA2):c.1884+1G>A

SNV
Germline

Chr6:129250214

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA365609683

rs_2114276718

2 SubmittersRCV002012684 RCV006275104

NM_000426.4(LAMA2):c.7927A>T (p.Arg2643Ter)

SNV
Germline

Chr6:129491929

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365630479

rs_2114859541

1 SubmittersRCV001979129

NM_000426.4(LAMA2):c.1306+1G>T

SNV
Germline

Chr6:129165676

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607378

rs_2114993363

1 SubmittersRCV001875254

NM_000426.4(LAMA2):c.7300+2T>G

SNV
Germline

Chr6:129465291

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3994495

rs_761456598

1 SubmittersRCV002049718

NM_000426.4(LAMA2):c.991A>T (p.Arg331Ter)

SNV
Germline

Chr6:129149060

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365606664

rs_1457748796

1 SubmittersRCV001994592

NM_000426.4(LAMA2):c.8357+1G>A

SNV
Germline

Chr6:129502772

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365633947

rs_1785749704

2 SubmittersRCV001999889 RCV004571711

NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)

SNV
Germline

Chr6:129453024

Pathogenic

LAMA2-related muscular dystrophy
Qualitative or quantitative defects of merosin
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146883477

rs_922640025

3 SubmittersRCV001994596 RCV003225984 RCV003471134

NM_000426.4(LAMA2):c.5830G>T (p.Glu1944Ter)

SNV
Germline

Chr6:129403924

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365617414

rs_1780112044

1 SubmittersRCV001941713

NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter)

SNV
Germline

Chr6:129250127

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365609491

rs_36044314

2 SubmittersRCV001939431

NM_000426.4(LAMA2):c.1177T>G (p.Cys393Gly)

SNV
Germline

Chr6:129154654

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607087

rs_2114976490

1 SubmittersRCV001939471

NM_000426.4(LAMA2):c.8344A>C (p.Lys2782Gln)

SNV
Germline

Chr6:129502758

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994797

rs_761364243

2 SubmittersRCV001948098 RCV003130603

NM_000426.4(LAMA2):c.3614C>T (p.Thr1205Met)

SNV
Germline

Chr6:129315534

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146913982

rs_909308611

2 SubmittersRCV001936194 RCV003130615

NM_000426.4(LAMA2):c.7518C>A (p.Tyr2506Ter)

SNV
Germline

Chr6:129478759

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365626649

rs_2114834541

1 SubmittersRCV001936265

NM_000426.4(LAMA2):c.4959+1G>A

SNV
Germline

Chr6:129369991

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365624755

rs_2114627508

1 SubmittersRCV001992109

NM_000426.4(LAMA2):c.3539G>C (p.Gly1180Ala)

SNV
Germline

Chr6:129314782

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993279

rs_762434314

2 SubmittersRCV001982524 RCV003303477

NM_000426.4(LAMA2):c.2541T>A (p.Cys847Ter)

SNV
Germline

Chr6:129287850

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609702

rs_2114420247

1 SubmittersRCV001905044

NM_000426.4(LAMA2):c.1783-1G>C

SNV
Germline

Chr6:129250111

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609462

rs_2114276133

1 SubmittersRCV001964332

NM_000426.4(LAMA2):c.6274+2T>G

SNV
Germline

Chr6:129443070

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3994197

rs_752812435

1 SubmittersRCV001975519

NM_000426.4(LAMA2):c.1207-1G>T

SNV
Germline

Chr6:129165575

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607163

rs_746785436

1 SubmittersRCV002005030

NM_000426.4(LAMA2):c.3305G>A (p.Arg1102His)

SNV
Germline

Chr6:129312991

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993232

rs_781580213

3 SubmittersRCV001996952 RCV003134294 RCV005590231

NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)

SNV
Germline

Chr6:129098213

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365829125

rs_143680577

4 SubmittersRCV001940869 RCV003471076 RCV004793622 RCV005031923

NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)

SNV
Germline

Chr6:129401255

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3993895

rs_373614496

4 SubmittersRCV002023664 RCV002486726 RCV003134358 RCV006458900

NM_000426.4(LAMA2):c.3817C>T (p.Gln1273Ter)

SNV
Germline

Chr6:129315843

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA146914278

rs_200625655

2 SubmittersRCV001996688

NM_000426.4(LAMA2):c.8666G>A (p.Gly2889Glu)

SNV
Germline

Chr6:129505318

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365634959

rs_2114901040

1 SubmittersRCV002020309

NM_000426.4(LAMA2):c.1705A>C (p.Ile569Leu)

SNV
Germline

Chr6:129192776

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992703

rs_766909163

2 SubmittersRCV001928836 RCV003303415

NM_000426.4(LAMA2):c.8703+1G>C

SNV
Germline

Chr6:129505356

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365635082

rs_1446002589

1 SubmittersRCV002019151

NM_000426.4(LAMA2):c.680A>G (p.Asp227Gly)

SNV
Germline

Chr6:129143941

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992402

rs_757635528

2 SubmittersRCV001866555 RCV002545805

NM_000426.4(LAMA2):c.499C>T (p.Gln167Ter)

SNV
Germline

Chr6:129098275

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365829255

rs_2114873389

1 SubmittersRCV001942095

NM_000426.4(LAMA2):c.7966G>T (p.Glu2656Ter)

SNV
Germline

Chr6:129491968

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365630624

rs_909847521

1 SubmittersRCV001872860

NM_000426.4(LAMA2):c.5235-1G>A

SNV
Germline

Chr6:129393044

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365614555

rs_1779406142

2 SubmittersRCV002011319 RCV003387540

NM_000426.4(LAMA2):c.942T>A (p.Cys314Ter)

SNV
Germline

Chr6:129149011

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365606547

rs_2114967843

1 SubmittersRCV001895793

NM_000426.4(LAMA2):c.4210C>T (p.Gln1404Ter)

SNV
Germline

Chr6:129328311

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365614197

rs_2114532848

1 SubmittersRCV001939344

NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter)

SNV
Germline

Chr6:129312918

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365611754

rs_2114493974

2 SubmittersRCV001946954 RCV003471175

NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter)

SNV
Germline

Chr6:129353328

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365618807

rs_2114593621

2 SubmittersRCV001946798 RCV003984866

NM_000426.4(LAMA2):c.6661G>C (p.Asp2221His)

SNV
Germline

Chr6:129454242

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994325

rs_762627851

2 SubmittersRCV001936136 RCV006280824

NM_000426.4(LAMA2):c.8682C>G (p.Tyr2894Ter)

SNV
Germline

Chr6:129505334

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365635015

rs_2114901162

1 SubmittersRCV001956201

NM_000426.4(LAMA2):c.1843G>T (p.Glu615Ter)

SNV
Germline

Chr6:129250172

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609593

rs_2114276465

1 SubmittersRCV001982915

NM_000426.4(LAMA2):c.414T>G (p.Tyr138Ter)

SNV
Germline

Chr6:129098190

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365829079

rs_2114873123

1 SubmittersRCV001982877

NM_000426.4(LAMA2):c.4861-2A>G

SNV
Germline

Chr6:129369890

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365624124

rs_2114627220

2 SubmittersRCV001999425 RCV003471248

NM_000426.4(LAMA2):c.6501C>A (p.Tyr2167Ter)

SNV
Germline

Chr6:129453059

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365616606

rs_1424455269

3 SubmittersRCV001985194 RCV005031971 RCV005868471

NM_000426.4(LAMA2):c.5071+1G>A

SNV
Germline

Chr6:129383234

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3993761

rs_757661749

1 SubmittersRCV001975055

NM_000426.4(LAMA2):c.8986A>T (p.Lys2996Ter)

SNV
Germline

Chr6:129512491

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365636319

rs_2114931240

1 SubmittersRCV001958691

NM_000426.4(LAMA2):c.8647G>T (p.Gly2883Ter)

SNV
Germline

Chr6:129505299

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365634922

rs_2114900886

1 SubmittersRCV001975119

NM_000426.4(LAMA2):c.8734A>G (p.Asn2912Asp)

SNV
Germline

Chr6:129507519

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994909

rs_762941185

2 SubmittersRCV001895288 RCV005590149

NM_000426.4(LAMA2):c.4498G>T (p.Gly1500Ter)

SNV
Germline

Chr6:129349359

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365617518

rs_776889674

1 SubmittersRCV001918617

NM_000426.4(LAMA2):c.6992+1G>T

SNV
Germline

Chr6:129460325

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365619482

rs_1256470015

1 SubmittersRCV002021755

NM_000426.4(LAMA2):c.3556-1G>C

SNV
Germline

Chr6:129315475

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365612578

rs_2114501078

2 SubmittersRCV001998045 RCV003464331

NM_000426.4(LAMA2):c.4717+2T>A

SNV
Germline

Chr6:129353359

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365618954

rs_779834223

1 SubmittersRCV002012561

NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter)

SNV
Germline

Chr6:129353270

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365618650

rs_374207670

1 SubmittersRCV002052175

NM_000426.4(LAMA2):c.553C>T (p.Arg185Cys)

SNV
Germline

Chr6:129098329

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3992363

rs_777977352

3 SubmittersRCV002202526 RCV003134379 RCV005397300

NM_000426.4(LAMA2):c.8344A>G (p.Lys2782Glu)

SNV
Germline

Chr6:129502758

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994798

rs_761364243

2 SubmittersRCV002218140 RCV003134380

NM_000426.4(LAMA2):c.4762C>T (p.Arg1588Cys)

SNV
Germline

Chr6:129366263

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993661

rs_568598684

2 SubmittersRCV002125852 RCV003134391

NM_000426.4(LAMA2):c.4959+8G>A

SNV
Germline

Chr6:129369998

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1094379619

rs_1777983774

2 SubmittersRCV002139036 RCV005256854

NM_000426.4(LAMA2):c.2857-1G>A

SNV
Unknown

Chr6:129297684

Likely pathogenic

Proximal muscle weakness

No Assertion Criteria Provided

CA365610905

rs_2114450848

1 SubmittersRCV002223148

NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)

SNV
Germline

Chr6:129505222

Conflicting classifications of pathogenicity

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994868

rs_372956200

3 SubmittersRCV002227663 RCV003093899 RCV003491054

NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)

SNV
Germline

Chr6:129260778

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA365608608

rs_2482165302

1 SubmittersRCV002310595

NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)

SNV
Germline

Chr6:129491980

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Condition: not provided
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3994712

rs_201587923

7 SubmittersRCV002245524 RCV003093969 RCV003138119 RCV002496181 RCV004545264 RCV006459110

NM_000426.4(LAMA2):c.8989-15T>G

SNV
Germline

Chr6:129514358

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3995005

rs_372370665

2 SubmittersRCV002254242 RCV006470309

NM_000426.4(LAMA2):c.2906G>A (p.Cys969Tyr)

SNV
Germline

Chr6:129297734

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365611004

rs_2114451064

1 SubmittersRCV002259559

NM_000426.4(LAMA2):c.8222C>T (p.Thr2741Met)

SNV
Germline

Chr6:129492461

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3994762

rs_766816598

3 SubmittersRCV002267300 RCV003096062

NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter)

SNV
Germline

Chr6:129393076

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365614625

rs_2114674584

1 SubmittersRCV002272708

NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter)

SNV
Germline

Chr6:129297861

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365611288

rs_2114451604

1 SubmittersRCV002290291

NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)

SNV
Unknown

Chr6:129149035

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365606606

rs_2482605485

1 SubmittersRCV002306634

NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)

SNV
Unknown

Chr6:129291675

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365610791

rs_2482308531

1 SubmittersRCV002306667

NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)

SNV
Germline

Chr6:129454268

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA365617294

rs_2533419466

2 SubmittersRCV002306688

NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)

SNV
Unknown

Chr6:129403945

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365617511

rs_2533301982

1 SubmittersRCV002306711

NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)

SNV
Unknown

Chr6:129177828

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365607654

rs_1223081122

1 SubmittersRCV002306747

NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)

SNV
Unknown

Chr6:129486558

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365629264

rs_1190231274

1 SubmittersRCV002309612

NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)

SNV
Unknown

Chr6:129270696

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609134

rs_781772588

1 SubmittersRCV002309622

NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)

SNV
Unknown

Chr6:129315625

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365613077

rs_2482415558

1 SubmittersRCV002309817

NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)

SNV
Unknown

Chr6:129315922

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365613502

rs_2482417558

1 SubmittersRCV002309843

NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)

SNV
Unknown

Chr6:129507497

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365635450

rs_1222759165

1 SubmittersRCV002310021

NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)

SNV
Unknown

Chr6:129353216

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA146910093

rs_766296358

1 SubmittersRCV002308343

NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)

SNV
Unknown

Chr6:129313095

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365612152

rs_2482400442

1 SubmittersRCV002308353

NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)

SNV
Unknown

Chr6:129481348

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365628061

rs_1668597244

1 SubmittersRCV002309332

NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)

SNV
Germline

Chr6:129165602

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365607219

rs_1583169005

3 SubmittersRCV002309340 RCV003471327 RCV003581818

NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)

SNV
Unknown

Chr6:129297707

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365610954

rs_1773276850

1 SubmittersRCV002309372

NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)

SNV
Unknown

Chr6:129280081

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609312

rs_2482251798

1 SubmittersRCV002309376

NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)

SNV
Unknown

Chr6:129270705

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609152

rs_2114357233

1 SubmittersRCV002309458

NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)

SNV
Unknown

Chr6:129481365

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365628163

rs_765714277

1 SubmittersRCV002306867

NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)

SNV
Unknown

Chr6:129154574

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365606911

rs_2482625026

1 SubmittersRCV002306911

NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)

SNV
Unknown

Chr6:129280131

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365609418

rs_2482252172

1 SubmittersRCV002306925

NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)

SNV
Unknown

Chr6:129349365

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365617542

rs_2482559726

1 SubmittersRCV002307027

NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)

SNV
Unknown

Chr6:129454224

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365617090

rs_2533419284

1 SubmittersRCV002307092

NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)

SNV
Unknown

Chr6:129328395

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365614505

rs_2482476408

1 SubmittersRCV002307164

NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)

SNV
Unknown

Chr6:129440962

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365629659

rs_2533386033

1 SubmittersRCV002307299

NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)

SNV
Unknown

Chr6:129478730

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365626426

rs_2114834489

1 SubmittersRCV002307318

NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)

SNV
Unknown

Chr6:129059786

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365828776

rs_2114795375

1 SubmittersRCV002310069

NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)

SNV
Unknown

Chr6:129403930

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365617450

rs_1441766008

1 SubmittersRCV002310291

NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)

SNV
Unknown

Chr6:129192700

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA365608135

rs_2482776118

1 SubmittersRCV002310546

NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)

SNV
Germline

Chr6:129391541

Pathogenic/Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613995

rs_1485209355

3 SubmittersRCV002466827 RCV004571169

NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)

SNV
Germline

Chr6:129342373

Conflicting classifications of pathogenicity

Muscular dystrophy, limb-girdle, autosomal recessive 23
not specified

Criteria Provided
Conflicting Classifications

CA365615196

rs_1334243603

2 SubmittersRCV002468739 RCV003324038

NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)

SNV
Germline

Chr6:129270684

Pathogenic/Likely pathogenic

Condition: not provided
LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3992919

rs_149896793

3 SubmittersRCV002475307 RCV002574710 RCV003465773

NM_000426.4(LAMA2):c.1248C>A (p.Cys416Ter)

SNV
Germline

Chr6:129165617

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607253

rs_371944692

1 SubmittersRCV003037187

NM_000426.4(LAMA2):c.2450+1G>C

SNV
Germline

Chr6:129270752

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365609260

rs_760169730

2 SubmittersRCV003060078 RCV004572724

NM_000426.4(LAMA2):c.2907C>A (p.Cys969Ter)

SNV
Germline

Chr6:129297735

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365611007

rs_1773279785

1 SubmittersRCV003060079

NM_000426.4(LAMA2):c.5297A>G (p.Glu1766Gly)

SNV
Germline

Chr6:129393107

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993841

rs_145815606

2 SubmittersRCV003052899 RCV006281155

NM_000426.4(LAMA2):c.5290G>A (p.Glu1764Lys)

SNV
Germline

Chr6:129393100

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365614668

rs_1429579718

2 SubmittersRCV003060492 RCV004632162

NM_000426.4(LAMA2):c.5858C>A (p.Thr1953Lys)

SNV
Germline

Chr6:129403952

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994001

rs_766874168

2 SubmittersRCV003067986 RCV005592582

NM_000426.4(LAMA2):c.8233G>A (p.Val2745Ile)

SNV
Germline

Chr6:129492472

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994767

rs_756159043

2 SubmittersRCV003065187 RCV004070380

NM_000426.4(LAMA2):c.2233G>A (p.Val745Ile)

SNV
Germline

Chr6:129267130

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992873

rs_577936545

2 SubmittersRCV003077860 RCV003234224

NM_000426.4(LAMA2):c.1601A>T (p.Tyr534Phe)

SNV
Germline

Chr6:129190338

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992657

rs_760843515

2 SubmittersRCV003073310 RCV003130833

NM_000426.4(LAMA2):c.467G>A (p.Arg156His)

SNV
Germline

Chr6:129098243

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3992344

rs_753835841

2 SubmittersRCV003071909 RCV003134618

NM_000426.4(LAMA2):c.4261C>T (p.Gln1421Ter)

SNV
Germline

Chr6:129328362

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365614390

rs_1775428953

1 SubmittersRCV003079069

NM_000426.4(LAMA2):c.7297C>T (p.Gln2433Ter)

SNV
Germline

Chr6:129465286

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365622275

rs_1253505269

1 SubmittersRCV003061557

NM_000426.4(LAMA2):c.8244+1G>C

SNV
Germline

Chr6:129492484

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365632498

rs_749522728

1 SubmittersRCV003079070

NM_000426.4(LAMA2):c.8586T>G (p.Tyr2862Ter)

SNV
Germline

Chr6:129505238

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365634795

rs_142451929

1 SubmittersRCV003061558

NM_000426.4(LAMA2):c.1679A>G (p.Asp560Gly)

SNV
Germline

Chr6:129192750

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3992696

rs_61620549

3 SubmittersRCV003073576 RCV003491239 RCV005587327

NM_000426.4(LAMA2):c.4879C>T (p.Arg1627Trp)

SNV
Germline

Chr6:129369910

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3993708

rs_773658276

3 SubmittersRCV002644020 RCV003319243 RCV006276156

NM_000426.4(LAMA2):c.8638G>A (p.Asp2880Asn)

SNV
Germline

Chr6:129505290

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994882

rs_146976290

3 SubmittersRCV002616783 RCV002616782 RCV003130852

NM_000426.4(LAMA2):c.9157C>T (p.Pro3053Ser)

SNV
Germline

Chr6:129514541

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3995047

rs_777133873

2 SubmittersRCV002663933 RCV004072095

NM_000426.4(LAMA2):c.6292A>G (p.Thr2098Ala)

SNV
Germline

Chr6:129445684

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994237

rs_762056074

2 SubmittersRCV002629840 RCV005636760

NM_000426.4(LAMA2):c.7749+1G>C

SNV
Germline

Chr6:129481440

Likely pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365628477

rs_2533478288

2 SubmittersRCV002511412 RCV003465780

NM_000426.4(LAMA2):c.1885-1G>A

SNV
Germline

Chr6:129252083

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610055

rs_2482129454

1 SubmittersRCV003121428

NM_000426.4(LAMA2):c.6175C>T (p.His2059Tyr)

SNV
Germline

Chr6:129440905

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994128

rs_762605718

2 SubmittersRCV002598098 RCV005655016

NM_000426.4(LAMA2):c.8544C>A (p.His2848Gln)

SNV
Germline

Chr6:129503277

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365634500

rs_1196380787

2 SubmittersRCV002593603

NM_000426.4(LAMA2):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr6:129050049

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365828667

rs_2482238214

1 SubmittersRCV002635329

NM_000426.4(LAMA2):c.7572+1G>T

SNV
Germline

Chr6:129478814

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365627066

rs_1554305006

1 SubmittersRCV002642363

NM_000426.4(LAMA2):c.2322+1G>A

SNV
Germline

Chr6:129267220

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365608965

rs_945091158

1 SubmittersRCV002604498

NM_000426.4(LAMA2):c.4983C>T (p.Gly1661=)

SNV
Germline

Chr6:129383145

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
not specified
Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA3993746

rs_772192888

5 SubmittersRCV002663305 RCV004526206 RCV003434499 RCV005928354

NM_000426.4(LAMA2):c.5327T>C (p.Leu1776Pro)

SNV
Germline

Chr6:129393137

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993849

rs_200123250

3 SubmittersRCV002705662 RCV003130745 RCV005662477

NM_000426.4(LAMA2):c.5563-1G>A

SNV
Germline

Chr6:129402323

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365615966

rs_2533298071

2 SubmittersRCV002774887 RCV003464592

NM_000426.4(LAMA2):c.113-2A>G

SNV
Germline

Chr6:129049916

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365828387

rs_2482237307

1 SubmittersRCV002736041

NM_000426.4(LAMA2):c.4059-1G>A

SNV
Germline

Chr6:129320537

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365612409

rs_2482439531

1 SubmittersRCV002730759

NM_000426.4(LAMA2):c.3735+1G>A

SNV
Germline

Chr6:129315656

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613151

rs_2482415741

2 SubmittersRCV002786267 RCV003465831

NM_000426.4(LAMA2):c.5969-1G>A

SNV
Germline

Chr6:129438645

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365627415

rs_1781951075

1 SubmittersRCV002850957

NM_000426.4(LAMA2):c.3037+1G>A

SNV
Germline

Chr6:129297866

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365611298

rs_1773291512

1 SubmittersRCV002856612

NM_000426.4(LAMA2):c.2271T>A (p.Cys757Ter)

SNV
Germline

Chr6:129267168

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365608850

rs_766257849

1 SubmittersRCV002846673

NM_000426.4(LAMA2):c.6429+1G>A

SNV
Germline

Chr6:129445822

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365632407

rs_1262029350

2 SubmittersRCV002842447 RCV004571309

NM_000426.4(LAMA2):c.6086-2A>G

SNV
Germline

Chr6:129440814

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA146916893

rs_759055212

1 SubmittersRCV002871238

NM_000426.4(LAMA2):c.6555T>A (p.Tyr2185Ter)

SNV
Germline

Chr6:129453113

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365616759

rs_1443093432

1 SubmittersRCV002880812

NM_000426.4(LAMA2):c.67C>T (p.Gln23Ter)

SNV
Germline

Chr6:128883312

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365828278

rs_2482367178

1 SubmittersRCV002872162

NM_000426.4(LAMA2):c.4984G>T (p.Glu1662Ter)

SNV
Germline

Chr6:129383146

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365628539

rs_1778791602

1 SubmittersRCV002863720

NM_000426.4(LAMA2):c.1206+2T>A

SNV
Germline

Chr6:129154685

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607156

rs_2482628176

1 SubmittersRCV002881339

NM_000426.4(LAMA2):c.3556-2A>T

SNV
Germline

Chr6:129315474

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365612572

rs_2482414524

1 SubmittersRCV002880330

NM_000426.4(LAMA2):c.4729G>T (p.Glu1577Ter)

SNV
Germline

Chr6:129366230

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365622545

rs_2482626629

1 SubmittersRCV002908218

NM_000426.4(LAMA2):c.1885-2A>G

SNV
Germline

Chr6:129252082

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610047

rs_1301666663

1 SubmittersRCV002877353

NM_000426.4(LAMA2):c.7826T>C (p.Ile2609Thr)

SNV
Germline

Chr6:129486550

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3994672

rs_752806166

2 SubmittersRCV002937614 RCV005636637

NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)

SNV
Germline

Chr6:129192820

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365608381

rs_2482776932

2 SubmittersRCV002932747 RCV003340560

NM_000426.4(LAMA2):c.2549G>T (p.Gly850Val)

SNV
Germline

Chr6:129287858

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993003

rs_34487290

2 SubmittersRCV002952736 RCV003170629

NM_000426.4(LAMA2):c.6275-2A>T

SNV
Germline

Chr6:129445665

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365631550

rs_1782331450

1 SubmittersRCV002959105

NM_000426.4(LAMA2):c.396+1G>A

SNV
Germline

Chr6:129059897

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365829022

rs_770617208

1 SubmittersRCV002944109

NM_000426.4(LAMA2):c.7868A>C (p.Glu2623Ala)

SNV
Germline

Chr6:129486592

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3994679

rs_188069926

3 SubmittersRCV002966156 RCV005636653 RCV005662534

NM_000426.4(LAMA2):c.9139G>T (p.Glu3047Ter)

SNV
Germline

Chr6:129514523

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365637015

rs_2533599555

1 SubmittersRCV002943492

NM_000426.4(LAMA2):c.5020A>T (p.Arg1674Ter)

SNV
Germline

Chr6:129383182

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365628676

rs_2482690703

1 SubmittersRCV002957871

NM_000426.4(LAMA2):c.1199C>T (p.Pro400Leu)

SNV
Germline

Chr6:129154676

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA3992535

rs_567687227

2 SubmittersRCV002988555 RCV005239582

NM_000426.4(LAMA2):c.9075G>A (p.Trp3025Ter)

SNV
Germline

Chr6:129514459

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365636875

rs_2533599065

1 SubmittersRCV003013467

NM_000426.4(LAMA2):c.1027+1G>C

SNV
Germline

Chr6:129149097

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365606743

rs_1064797327

1 SubmittersRCV003013545

NM_000426.4(LAMA2):c.4860+1G>A

SNV
Germline

Chr6:129366362

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365623108

rs_2482627503

1 SubmittersRCV003014171

NM_000426.4(LAMA2):c.7265G>A (p.Trp2422Ter)

SNV
Germline

Chr6:129465254

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365622092

rs_2533443750

1 SubmittersRCV003022939

NM_000426.4(LAMA2):c.4345G>T (p.Glu1449Ter)

SNV
Germline

Chr6:129342376

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365615209

rs_2482531900

1 SubmittersRCV003029532

NM_000426.4(LAMA2):c.7572+2T>G

SNV
Germline

Chr6:129478815

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365627077

rs_2114834693

1 SubmittersRCV003039027

NM_000426.4(LAMA2):c.3607C>T (p.Gln1203Ter)

SNV
Germline

Chr6:129315527

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365612741

rs_745363589

1 SubmittersRCV003027441

NM_000426.4(LAMA2):c.6275-1G>T

SNV
Germline

Chr6:129445666

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365631556

rs_2533398638

1 SubmittersRCV003035706

NM_000426.4(LAMA2):c.3646G>T (p.Glu1216Ter)

SNV
Germline

Chr6:129315566

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365612882

rs_1359108756

1 SubmittersRCV003036514

NM_000426.4(LAMA2):c.4945G>T (p.Glu1649Ter)

SNV
Germline

Chr6:129369976

Likely pathogenic

Condition: not provided
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365624629

rs_143215851

2 SubmittersRCV003146874 RCV004572857

NM_000426.4(LAMA2):c.4365C>G (p.Tyr1455Ter)

SNV
Germline

Chr6:129342396

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365615292

rs_1583536128

1 SubmittersRCV003146897

NM_000426.4(LAMA2):c.4397G>A (p.Cys1466Tyr)

SNV
Germline

Chr6:129342428

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA365615425

rs_1776320682

2 SubmittersRCV003131426 RCV006561032

NM_000426.4(LAMA2):c.3426C>T (p.Gly1142=)

SNV
Germline

Chr6:129314669

Conflicting classifications of pathogenicity

Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA451936610

rs_2482409878

2 SubmittersRCV003133991 RCV003738365

NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)

SNV
Germline

Chr6:129491937

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365630517

rs_1398516348

3 SubmittersRCV003155812 RCV005870104

NM_000426.4(LAMA2):c.1207-1G>A

SNV
Germline

Chr6:129165575

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

CA146895484

rs_746785436

1 SubmittersRCV004594684

NM_000426.4(LAMA2):c.8988+1G>T

SNV
Germline

Chr6:129512494

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365636331

rs_1786674391

1 SubmittersRCV003226036

NM_000426.4(LAMA2):c.4510C>T (p.Gln1504Ter)

SNV
Germline

Chr6:129349371

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365617567

rs_2482559780

1 SubmittersRCV003432041

NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)

SNV
Germline

Chr6:129147000

Pathogenic/Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365606355

rs_1583133314

2 SubmittersRCV003469891 RCV005100175

NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)

SNV
Unknown

Chr6:129291654

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365610741

rs_2482308393

1 SubmittersRCV003469893

NM_000426.4(LAMA2):c.7301-1G>A

SNV
Germline

Chr6:129473213

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365624096

rs_2533459456

2 SubmittersRCV003469895 RCV003738468

NM_000426.4(LAMA2):c.113-2A>C

SNV
Unknown

Chr6:129049916

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365828386

rs_2482237307

1 SubmittersRCV003469896

NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)

SNV
Unknown

Chr6:129460280

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365619313

rs_1783184138

1 SubmittersRCV003469898

NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)

SNV
Germline

Chr6:129252175

Pathogenic

Merosin deficient congenital muscular dystrophy
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365610376

rs_1276391947

3 SubmittersRCV003469901 RCV005036812 RCV005100176

NM_000426.4(LAMA2):c.2323-2A>T

SNV
Germline

Chr6:129270622

Likely pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365608972

rs_1787861114

2 SubmittersRCV003469907 RCV003988119

NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)

SNV
Unknown

Chr6:129190259

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA146879781

rs_921374592

1 SubmittersRCV003476457

NM_000426.4(LAMA2):c.283+2T>A

SNV
Unknown

Chr6:129050090

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365828760

rs_2482238522

1 SubmittersRCV003469908

NM_000426.4(LAMA2):c.2537+1G>C

SNV
Unknown

Chr6:129280148

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365609452

rs_1433459701

1 SubmittersRCV003469910

NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)

SNV
Unknown

Chr6:129454204

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365617015

rs_2533419214

1 SubmittersRCV003469911

NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)

SNV
Unknown

Chr6:129291667

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365610774

rs_2482308463

1 SubmittersRCV003469912

NM_000426.4(LAMA2):c.2856+1G>C

SNV
Unknown

Chr6:129291721

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365610899

rs_2482308831

1 SubmittersRCV003476458

NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)

SNV
Unknown

Chr6:129440833

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365628867

rs_2533385443

1 SubmittersRCV003469918

NM_000426.4(LAMA2):c.7899-1G>C

SNV
Unknown

Chr6:129491900

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365630353

rs_1562614305

1 SubmittersRCV003469919

NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)

SNV
Unknown

Chr6:129503273

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365634490

rs_2533539139

1 SubmittersRCV003469921

NM_000426.4(LAMA2):c.1307-2A>G

SNV
Unknown

Chr6:129177704

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA3992586

rs_780263878

1 SubmittersRCV003469926

NM_000426.4(LAMA2):c.112+1G>T

SNV
Unknown

Chr6:128883358

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365828376

rs_398123367

1 SubmittersRCV003469927

NM_000426.4(LAMA2):c.1596G>A (p.Trp532Ter)

SNV
Germline

Chr6:129190333

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365608048

rs_752763391

1 SubmittersRCV003575163

NM_000426.4(LAMA2):c.7749+1G>T

SNV
Germline

Chr6:129481440

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365628479

rs_2533478288

1 SubmittersRCV003575164

NM_000426.4(LAMA2):c.720T>G (p.Tyr240Ter)

SNV
Germline

Chr6:129143981

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365606033

rs_773053547

1 SubmittersRCV003575122

NM_000426.4(LAMA2):c.2322+2T>C

SNV
Germline

Chr6:129267221

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365608968

rs_2482194892

1 SubmittersRCV003575123

NM_000426.4(LAMA2):c.5727-1G>A

SNV
Germline

Chr6:129403820

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365616807

rs_2533301556

1 SubmittersRCV003575156

NM_000426.4(LAMA2):c.5445+1G>T

SNV
Germline

Chr6:129393256

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365615021

rs_1779423047

1 SubmittersRCV003575128

NM_000426.4(LAMA2):c.6269-1G>C

SNV
Germline

Chr6:129443062

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3994195

rs_759727498

1 SubmittersRCV003577765

NM_000426.4(LAMA2):c.6085+2T>A

SNV
Germline

Chr6:129438764

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365628266

rs_2533379741

1 SubmittersRCV003577794

NM_000426.4(LAMA2):c.5234+1G>C

SNV
Germline

Chr6:129391654

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365614448

rs_781376927

1 SubmittersRCV003577755

NM_000426.4(LAMA2):c.2421T>A (p.Cys807Ter)

SNV
Germline

Chr6:129270722

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609193

rs_2482210602

1 SubmittersRCV003577876

NM_000426.4(LAMA2):c.2806C>T (p.Gln936Ter)

SNV
Germline

Chr6:129291670

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610780

rs_2482308483

1 SubmittersRCV003576081

NM_000426.4(LAMA2):c.1207-2A>G

SNV
Germline

Chr6:129165574

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365607160

rs_2482669962

1 SubmittersRCV003576099

NM_000426.4(LAMA2):c.799G>A (p.Asp267Asn)

SNV
Germline

Chr6:129144060

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3992425

rs_748356668

1 SubmittersRCV003573547

NM_000426.4(LAMA2):c.2538-1G>C

SNV
Germline

Chr6:129287846

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365609692

rs_2482291664

2 SubmittersRCV003573549 RCV005356470

NM_000426.4(LAMA2):c.4035T>G (p.Tyr1345Ter)

SNV
Germline

Chr6:129316148

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365613829

rs_2482419093

1 SubmittersRCV003573551

NM_000426.4(LAMA2):c.8703+1G>A

SNV
Germline

Chr6:129505356

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365635080

rs_1446002589

2 SubmittersRCV003573553

NM_000426.4(LAMA2):c.8725T>C (p.Cys2909Arg)

SNV
Germline

Chr6:129507510

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365635480

rs_2533562422

1 SubmittersRCV003573554

NM_000426.4(LAMA2):c.3555G>A (p.Trp1185Ter)

SNV
Germline

Chr6:129314798

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365612531

rs_774019483

1 SubmittersRCV003573556

NM_000426.4(LAMA2):c.1632T>A (p.Tyr544Ter)

SNV
Germline

Chr6:129192703

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365608142

rs_2482776142

1 SubmittersRCV003582857

NM_000426.4(LAMA2):c.4706G>A (p.Trp1569Ter)

SNV
Germline

Chr6:129353346

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365618891

rs_2482575969

1 SubmittersRCV003582922

NM_000426.4(LAMA2):c.2856+1G>A

SNV
Germline

Chr6:129291721

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610897

rs_2482308831

1 SubmittersRCV003582910

NM_000426.4(LAMA2):c.1884+1G>T

SNV
Germline

Chr6:129250214

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365609685

rs_2114276718

1 SubmittersRCV003582994

NM_000426.4(LAMA2):c.5446-2A>C

SNV
Germline

Chr6:129401222

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365615028

rs_2533295360

1 SubmittersRCV003582800

NM_000426.4(LAMA2):c.3747T>G (p.Tyr1249Ter)

SNV
Germline

Chr6:129315773

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA3993355

rs_780154697

1 SubmittersRCV003583095

NM_000426.4(LAMA2):c.3686A>C (p.His1229Pro)

SNV
Germline

Chr6:129315606

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3993330

rs_753562327

2 SubmittersRCV003583096 RCV005662680

NM_000426.4(LAMA2):c.6573+1G>C

SNV
Germline

Chr6:129453132

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA146883648

rs_757435241

1 SubmittersRCV003735165

NM_000426.4(LAMA2):c.2370T>A (p.Pro790=)

SNV
Germline

Chr6:129270671

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA146880590

rs_760128108

1 SubmittersRCV003735211

NM_000426.4(LAMA2):c.2856+2T>C

SNV
Germline

Chr6:129291722

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610902

rs_2482308835

1 SubmittersRCV003735242

NM_000426.4(LAMA2):c.2749+1G>T

SNV
Germline

Chr6:129288059

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365610282

rs_759555791

1 SubmittersRCV003735307

NM_000426.4(LAMA2):c.3294G>A (p.Trp1098Ter)

SNV
Germline

Chr6:129312980

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365611893

rs_1298336252

1 SubmittersRCV003735342

NM_000426.4(LAMA2):c.7573-2A>T

SNV
Germline

Chr6:129481261

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365627611

rs_2533477720

1 SubmittersRCV003735324

NM_000426.4(LAMA2):c.4638C>A (p.Cys1546Ter)

SNV
Germline

Chr6:129353278

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365618668

rs_1467076006

1 SubmittersRCV003735436

NM_000426.4(LAMA2):c.909+2T>A

SNV
Germline

Chr6:129147050

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365606464

rs_2482596558

1 SubmittersRCV003735389

NM_000426.4(LAMA2):c.1782+1G>A

SNV
Germline

Chr6:129192854

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365608454

rs_1217170426

1 SubmittersRCV003735472

NM_000426.4(LAMA2):c.3736-1G>C

SNV
Germline

Chr6:129315761

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365613160

rs_2482416511

1 SubmittersRCV003735474

NM_000426.4(LAMA2):c.6127C>T (p.Gln2043Ter)

SNV
Germline

Chr6:129440857

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365629027

rs_897866453

1 SubmittersRCV003818357

NM_000426.4(LAMA2):c.3146G>A (p.Trp1049Ter)

SNV
Germline

Chr6:129300844

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365611545

rs_2482348803

1 SubmittersRCV003876702

NM_000426.4(LAMA2):c.7573-2A>G

SNV
Germline

Chr6:129481261

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

CA365627609

rs_2533477720

1 SubmittersRCV003876858

NM_000426.4(LAMA2):c.4689G>A (p.Trp1563Ter)

SNV
Germline

Chr6:129353329

Likely pathogenic

LAMA2-related disorder

No Assertion Criteria Provided

CA365618813

rs_1776964566

1 SubmittersRCV004531867

NM_000426.4(LAMA2):c.113-1G>T

SNV
Germline

Chr6:129049917

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365828391

rs_2482237317

1 SubmittersRCV003993402

NM_000426.4(LAMA2):c.8569C>T (p.Gln2857Ter)

SNV
Germline

Chr6:129505221

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

CA365634758

rs_767799742

1 SubmittersRCV004547328

NM_000426.4(LAMA2):c.8049C>A (p.Cys2683Ter)

SNV
Germline

Chr6:129492051

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

rs_779116918

1 SubmittersRCV004576142

NM_000426.4(LAMA2):c.4960-1G>C

SNV
Unknown

Chr6:129383121

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

rs_2482690290

1 SubmittersRCV004576781

NM_000426.4(LAMA2):c.6145A>T (p.Lys2049Ter)

SNV
Unknown

Chr6:129440875

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

rs_774208594

1 SubmittersRCV004576783

NM_000426.4(LAMA2):c.1783-2A>G

SNV
Unknown

Chr6:129250110

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

rs_2482118024

1 SubmittersRCV004576785

NM_000426.4(LAMA2):c.1027+2T>C

SNV
Unknown

Chr6:129149098

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

rs_2482605796

1 SubmittersRCV004576786

NM_000426.4(LAMA2):c.5337C>G (p.Tyr1779Ter)

SNV
Unknown

Chr6:129393147

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

rs_2482737064

1 SubmittersRCV004576787

NM_000426.4(LAMA2):c.3924+1G>A

SNV
Germline

Chr6:129315951

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

rs_2482417853

1 SubmittersRCV004577247

NM_000426.4(LAMA2):c.258C>A (p.Cys86Ter)

SNV
Germline

Chr6:129050063

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

rs_756131313

1 SubmittersRCV004587706

NM_000426.4(LAMA2):c.326G>A (p.Trp109Ter)

SNV
Germline

Chr6:129059826

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

rs_764625508

1 SubmittersRCV004586411

NM_000426.4(LAMA2):c.7573-1G>A

SNV
Germline

Chr6:129481262

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004689563

NM_000426.4(LAMA2):c.4399C>T (p.Gln1467Ter)

SNV
Germline

Chr6:129342430

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004689569

NM_000426.4(LAMA2):c.6584T>C (p.Leu2195Pro)

SNV
Germline

Chr6:129454165

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004729378

NM_000426.4(LAMA2):c.8858-2A>G

SNV
Germline

Chr6:129512361

Likely pathogenic

LAMA2-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004736831

NM_000426.4(LAMA2):c.5708C>G (p.Ser1903Ter)

SNV
Germline

Chr6:129402469

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004764275

NM_000426.4(LAMA2):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr6:129192743

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004800871

NM_000426.4(LAMA2):c.2856+1068G>A

SNV
Germline

Chr6:129292788

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV004986291

NM_000426.4(LAMA2):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr6:128883339

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037823

NM_000426.4(LAMA2):c.850G>A (p.Gly284Arg)

SNV
Germline

Chr6:129146989

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005045538

NM_000426.4(LAMA2):c.1593C>G (p.Tyr531Ter)

SNV
Germline

Chr6:129190330

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037827

NM_000426.4(LAMA2):c.1726C>T (p.Gln576Ter)

SNV
Germline

Chr6:129192797

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037828

NM_000426.4(LAMA2):c.3520C>T (p.Gln1174Ter)

SNV
Germline

Chr6:129314763

Pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005045540

NM_000426.4(LAMA2):c.3964A>T (p.Arg1322Ter)

SNV
Germline

Chr6:129316077

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037833

NM_000426.4(LAMA2):c.4087G>T (p.Glu1363Ter)

SNV
Germline

Chr6:129320566

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005045541

NM_000426.4(LAMA2):c.4437-1G>A

SNV
Germline

Chr6:129349297

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037835

NM_000426.4(LAMA2):c.6707+1G>T

SNV
Germline

Chr6:129454289

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005045545

NM_000426.4(LAMA2):c.6708-1G>C

SNV
Germline

Chr6:129456334

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037845

NM_000426.4(LAMA2):c.6993-1G>C

SNV
Germline

Chr6:129464289

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037847

NM_000426.4(LAMA2):c.7957C>T (p.Gln2653Ter)

SNV
Germline

Chr6:129491959

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005045548

NM_000426.4(LAMA2):c.8893G>T (p.Glu2965Ter)

SNV
Germline

Chr6:129512398

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005037848

NM_000426.4(LAMA2):c.4311+1G>A

SNV
Germline

Chr6:129328413

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005088249

NM_000426.4(LAMA2):c.3892C>T (p.Gln1298Ter)

SNV
Germline

Chr6:129315918

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005117416

NM_000426.4(LAMA2):c.6250A>T (p.Lys2084Ter)

SNV
Germline

Chr6:129440980

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005119196

NM_000426.4(LAMA2):c.1693C>T (p.Gln565Ter)

SNV
Germline

Chr6:129192764

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005120049

NM_000426.4(LAMA2):c.8829T>G (p.Tyr2943Ter)

SNV
Germline

Chr6:129507614

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005128871

NM_000426.4(LAMA2):c.313G>T (p.Gly105Ter)

SNV
Germline

Chr6:129059813

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005134910

NM_000426.4(LAMA2):c.6406C>T (p.Gln2136Ter)

SNV
Germline

Chr6:129445798

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005138186

NM_000426.4(LAMA2):c.5865+1G>A

SNV
Germline

Chr6:129403960

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005156179

NM_000426.4(LAMA2):c.6992+1G>A

SNV
Germline

Chr6:129460325

Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005146981 RCV006278144

NM_000426.4(LAMA2):c.8245-2A>C

SNV
Germline

Chr6:129502657

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005204278

NM_000426.4(LAMA2):c.1027G>T (p.Ala343Ser)

SNV
Germline

Chr6:129149096

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

1 SubmittersRCV005233244

NM_000426.4(LAMA2):c.2987G>A (p.Cys996Tyr)

SNV
Germline

Chr6:129297815

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

1 SubmittersRCV005407475

NM_000426.4(LAMA2):c.5167C>T (p.Gln1723Ter)

SNV
Germline

Chr6:129391586

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005410217

NM_000426.4(LAMA2):c.2844T>A (p.Cys948Ter)

SNV
Germline

Chr6:129291708

Pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

No Assertion Criteria Provided

1 SubmittersRCV005865110

NM_000426.4(LAMA2):c.2857-2A>G

SNV
Germline

Chr6:129297683

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

1 SubmittersRCV005416294

NM_000426.4(LAMA2):c.5726+1G>A

SNV
Germline

Chr6:129402488

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005418488

NM_000426.4(LAMA2):c.2208+2T>C

SNV
Unknown

Chr6:129260824

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005600602

NM_000426.4(LAMA2):c.4491T>A (p.Cys1497Ter)

SNV
Germline

Chr6:129349352

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005636497

NM_000426.4(LAMA2):c.2505C>A (p.Cys835Ter)

SNV
Germline

Chr6:129280115

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005636498

NM_000426.4(LAMA2):c.8989-1G>C

SNV
Germline

Chr6:129514372

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005636499

NM_000426.4(LAMA2):c.-2C>A

SNV
Germline

Chr6:128883244

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005635684

NM_000426.4(LAMA2):c.7300+1G>T

SNV
Unknown

Chr6:129465290

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005637721

NM_000426.4(LAMA2):c.1782+2T>G

SNV
Germline

Chr6:129192855

Pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005885667

NM_000426.4(LAMA2):c.2133T>G (p.Tyr711Ter)

SNV
Germline

Chr6:129260747

Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

1 SubmittersRCV005886084

NM_000426.4(LAMA2):c.4987C>T (p.Gln1663Ter)

SNV
Germline

Chr6:129383149

Likely pathogenic

Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005882683

NM_000426.4(LAMA2):c.1783-1G>A

SNV
Germline

Chr6:129250111

Likely pathogenic

Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Single Submitter

1 SubmittersRCV005938371

NM_000426.4(LAMA2):c.4671T>A (p.Cys1557Ter)

SNV
Germline

Chr6:129353311

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006515695

NM_000426.4(LAMA2):c.3574C>T (p.Gln1192Ter)

SNV
Germline

Chr6:129315494

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006520617

NM_000426.4(LAMA2):c.4437-2A>C

SNV
Germline

Chr6:129349296

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006568947

NM_000426.4(LAMA2):c.7921G>T (p.Glu2641Ter)

SNV
Germline

Chr6:129491923

Pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006606038

NM_000426.4(LAMA2):c.640-2A>G

SNV
Germline

Chr6:129143899

Likely pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006623122

NM_000426.4(LAMA2):c.283+2T>C

SNV
Germline

Chr6:129050090

Pathogenic

LAMA2-related muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006622199