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 Condition: not provided LAMA2-related muscular dystrophy 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 RCV000790757 RCV001068136 RCV001794447 RCV002288491 RCV002513061 RCV004532360
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)	SNV Germline	Chr6:129353285	Pathogenic	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	Criteria Provided Multiple Submitters No Conflicts	CA123848	rs_121913575	6 SubmittersRCV000015369 RCV001203616 RCV000674731 RCV005357127
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)	SNV Germline	Chr6:129464444	Pathogenic	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123851	rs_121913576	10 SubmittersRCV000015370 RCV000790693 RCV000179066 RCV002476971 RCV000654712 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	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	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.184G>T (p.Gly62Ter)	SNV Germline	Chr6:129049989	Pathogenic/Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	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.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.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 Merosin deficient congenital muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency	Criteria Provided Conflicting Classifications	CA146139	rs_56173620	11 SubmittersRCV000078779 RCV000224783 RCV000525182 RCV000656110 RCV001258302 RCV001152792
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)	SNV Germline	Chr6:129427800	Pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital 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 SubmittersRCV000546384 RCV000178452 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	3 SubmittersRCV000078790 RCV000667651 RCV001085072
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	SNV Germline	Chr6:129460287	Pathogenic	Merosin deficient congenital muscular dystrophy Myalgia Exercise-induced myalgia Elevated circulating creatine kinase concentration Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA220792	rs_398123383	10 SubmittersRCV000178685 RCV000626687 RCV000760398 RCV001202930
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	7 SubmittersRCV000078803 RCV000669930 RCV000809231 RCV003387755 RCV005031564
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.437C>T (p.Ser146Phe)	SNV Germline	Chr6:129098213	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA295383	rs_143680577	5 SubmittersRCV000674785 RCV000802006 RCV000505761
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 Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA295389	rs_150394215	4 SubmittersRCV001040070 RCV001156262 RCV003133149 RCV002505140
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 Congenital muscular dystrophy due to partial LAMA2 deficiency Intellectual disability Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA295413	rs_117422805	12 SubmittersRCV000149994 RCV000723613 RCV000670870 RCV001084610 RCV001156369 RCV001252050 RCV005031655
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)	SNV Germline	Chr6:129314775	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Intellectual disability 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 LAMA2-related disorder not specified	Criteria Provided Conflicting Classifications	CA295392	rs_34505698	13 SubmittersRCV000550298 RCV001252051 RCV000712184 RCV000764624 RCV001156479 RCV001270116 RCV004532672 RCV005237585
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)	SNV Germline	Chr6:129465239	Conflicting classifications of pathogenicity	Inborn genetic diseases LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Condition: not provided Congenital muscular dystrophy due to partial LAMA2 deficiency Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA295398	rs_147185142	9 SubmittersRCV002516011 RCV000549623 RCV000665052 RCV000724876 RCV001155019 RCV002492550
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)	SNV Germline	Chr6:129486612	Pathogenic	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA295401	rs_727502851	5 SubmittersRCV000824022 RCV001781490 RCV000668682
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 Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA295410	rs_146525742	7 SubmittersRCV000227406 RCV000674500 RCV000767113 RCV001154393 RCV000707347
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	Criteria Provided Conflicting Classifications	CA246937	rs_201375881	13 SubmittersRCV000253869 RCV000515327 RCV000723450 RCV001084465 RCV001154395 RCV001810426 RCV002514873
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.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	9 SubmittersRCV000171401 RCV000696321 RCV000665977 RCV001375997 RCV005031701
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.2749+1G>C	SNV Germline	Chr6:129288059	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275053	rs_759555791	5 SubmittersRCV000175397 RCV000724720 RCV000799916
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	SNV Germline	Chr6:129349348	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 Congenital muscular dystrophy due to partial LAMA2 deficiency Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA208965	rs_147077184	19 SubmittersRCV000194655 RCV000659062 RCV000509423 RCV000709620 RCV001081183 RCV001152676 RCV005396541 RCV004537432
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.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.7810C>T (p.Arg2604Ter)	SNV Germline	Chr6:129486534	Pathogenic/Likely pathogenic	Condition: not provided 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	CA275319	rs_766920075	7 SubmittersRCV000179173 RCV001225446 RCV005031713 RCV003468868
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)	SNV Germline	Chr6:129503230	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246861	rs_794727815	4 SubmittersRCV000179578 RCV002515279 RCV002492787 RCV005589784
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.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:129165672	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Condition: not provided 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 SubmittersRCV000531230 RCV000224579 RCV000670070 RCV004799201
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	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA10588407	rs_746201268	5 SubmittersRCV000684848 RCV000255424 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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	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	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	CA3992309	rs_770617208	7 SubmittersRCV000553357 RCV000725186 RCV000316746 RCV003152703
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)	SNV Germline	Chr6:129316161	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	CA3993416	rs_756854513	9 SubmittersRCV000399363 RCV001390276 RCV000725563 RCV005031859
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)	SNV Germline	Chr6:129144078	Pathogenic	Condition: not provided Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10605782	rs_886043648	3 SubmittersRCV000726019 RCV000326246 RCV005090373
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	SNV Germline	Chr6:129391535	Pathogenic	Merosin deficient congenital muscular dystrophy 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	Criteria Provided Multiple Submitters No Conflicts	CA3993781	rs_758775001	7 SubmittersRCV000328095 RCV000726090 RCV000530826 RCV000763554 RCV003388578
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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3992592	rs_140604077	6 SubmittersRCV000270098 RCV000658392 RCV000546108 RCV002487557
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)	SNV Germline	Chr6:129383155	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency LAMA2-related muscular dystrophy Condition: not provided not specified Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3993749	rs_373997222	6 SubmittersRCV000364458 RCV000654755 RCV002461105 RCV003401370 RCV005398485
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	10 SubmittersRCV000284205 RCV000536495 RCV000712196 RCV000764631 RCV001293062 RCV003992282
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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3994926	rs_370843758	5 SubmittersRCV000294689 RCV000673324 RCV000691737 RCV002229896 RCV002487559
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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3993481	rs_144830879	5 SubmittersRCV000397163 RCV000695834 RCV000764626 RCV002520403 RCV003133244
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 Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3994372	rs_146854942	10 SubmittersRCV000376263 RCV000700908 RCV001266074 RCV000726647 RCV002487558
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)	SNV Germline	Chr6:129312930	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Intellectual disability Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993219	rs_146490004	7 SubmittersRCV000413698 RCV000557605 RCV001252052 RCV000764623 RCV001508557 RCV002523936
NM_000426.4(LAMA2):c.3555+1G>A	SNV Germline	Chr6:129314799	Likely pathogenic	Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	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.283+1G>A	SNV Germline	Chr6:129050089	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	CA3992263	rs_200288072	7 SubmittersRCV000444644 RCV000665566 RCV000529392 RCV005044638
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 Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16618242	rs_1064797040	6 SubmittersRCV000479998 RCV000674058 RCV001823143 RCV001851279
NM_000426.4(LAMA2):c.4717+1G>T	SNV Germline	Chr6:129353358	Likely pathogenic	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365618953	rs_1131691660	4 SubmittersRCV000654738 RCV000494223 RCV000664588
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)	SNV Germline	Chr6:129464371	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	CA3994436	rs_762806915	7 SubmittersRCV000498487 RCV000665940 RCV000815600 RCV000763555
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)	SNV Germline	Chr6:129507627	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Primary dilated cardiomyopathy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3994930	rs_143638361	6 SubmittersRCV000723578 RCV001086813 RCV001293224 RCV000764636
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)	SNV Germline	Chr6:129267114	Conflicting classifications of pathogenicity	not specified 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	CA3992869	rs_192317605	6 SubmittersRCV000501465 RCV000535129 RCV001153747 RCV001507679 RCV000665212 RCV001270112
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)	SNV Germline	Chr6:129464385	Conflicting classifications of pathogenicity	not specified LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 LAMA2-related disorder	Criteria Provided Conflicting Classifications	CA3994438	rs_371403343	6 SubmittersRCV000500474 RCV000557131 RCV001509285 RCV000764632 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.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	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3994141	rs_142264176	4 SubmittersRCV000527643 RCV000509339 RCV001821424 RCV003133294
NM_000426.4(LAMA2):c.4960-17C>A	SNV Germline	Chr6:129383105	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA451934336	rs_758048596	7 SubmittersRCV003470642 RCV000513320 RCV001857325 RCV005044762
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.2477G>A (p.Arg826Gln)	SNV Germline	Chr6:129280087	Conflicting classifications of pathogenicity	Condition: not provided LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992959	rs_759973830	5 SubmittersRCV000518412 RCV000815597 RCV000764622
NM_000426.4(LAMA2):c.3924+2T>C	SNV Germline	Chr6:129315952	Pathogenic	Congenital muscular dystrophy due to partial LAMA2 deficiency Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Muscular dystrophy, congenital, merosin deficient or partially deficient	Criteria Provided Multiple Submitters No Conflicts	CA365613577	rs_1554269966	8 SubmittersRCV000015363 RCV000518321 RCV000985057 RCV000853232 RCV001857909 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 Abnormality of the musculature Inborn genetic diseases Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993804	rs_781376927	8 SubmittersRCV000516970 RCV000987774 RCV001068964 RCV001814178 RCV001267180 RCV005044769
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)	SNV Germline	Chr6:129492013	Conflicting classifications of pathogenicity	not specified Congenital muscular dystrophy due to partial LAMA2 deficiency Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994717	rs_780695627	5 SubmittersRCV000517410 RCV001154297 RCV000764634 RCV000823641 RCV003133298
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)	SNV Germline	Chr6:129149015	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy 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.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.2240G>C (p.Gly747Ala)	SNV Germline	Chr6:129267137	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992875	rs_139843107	3 SubmittersRCV000528186 RCV002483505 RCV003139866
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.8890G>T (p.Val2964Leu)	SNV Germline	Chr6:129512395	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Congenital muscular dystrophy due to partial LAMA2 deficiency Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994959	rs_202159946	3 SubmittersRCV000527451 RCV001151351 RCV005398869
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.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.542A>G (p.Asn181Ser)	SNV Germline	Chr6:129098318	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy 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 Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA365607367	rs_1374568851	5 SubmittersRCV000553179 RCV000984281 RCV005034125 RCV004721444
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	Criteria Provided Conflicting Classifications	CA3992685	rs_899353	5 SubmittersRCV000712181 RCV001083246 RCV001157938 RCV001333433
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.2T>C (p.Met1Thr)	SNV Germline	Chr6:128883247	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Condition: not provided Merosin deficient congenital muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA147234456	rs_374403765	7 SubmittersRCV000532735 RCV001090685 RCV000672881 RCV005357620
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)	SNV Germline	Chr6:129393215	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993865	rs_141235562	4 SubmittersRCV000527012 RCV000764629 RCV003133364 RCV002526747
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.8920A>T (p.Thr2974Ser)	SNV Germline	Chr6:129512425	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided Merosin deficient congenital muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994972	rs_140202046	6 SubmittersRCV000537632 RCV001291824 RCV000730617 RCV001291750 RCV002527941
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.437C>G (p.Ser146Cys)	SNV Germline	Chr6:129098213	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided not specified Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Conflicting Classifications	CA3992339	rs_143680577	6 SubmittersRCV000654711 RCV001572301 RCV004586852 RCV005392247
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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3993373	rs_758134778	3 SubmittersRCV000654730 RCV000764625 RCV004025934
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.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	Criteria Provided Multiple Submitters No Conflicts	CA3994297	rs_757435241	3 SubmittersRCV000666889 RCV001219998 RCV005046864
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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3994771	rs_749522728	8 SubmittersRCV000665939 RCV000809347 RCV000763557 RCV001597197
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 Condition: not provided LAMA2-related muscular dystrophy LAMA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA147269490	rs_1018100729	5 SubmittersRCV000673365 RCV001784282 RCV001208127 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 Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	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 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	CA3992954	rs_993196576	6 SubmittersRCV000665168 RCV001091208 RCV001216650 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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Intellectual disability LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3993615	rs_778106503	4 SubmittersRCV000667215 RCV000764627 RCV005626144 RCV002532062
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 Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA3994416	rs_200669208	3 SubmittersRCV000666010 RCV001037634 RCV005034239
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.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.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 Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3994961	rs_374888837	6 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 Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Intellectual disability	Criteria Provided Conflicting Classifications	CA3995048	rs_151049890	5 SubmittersRCV000703407 RCV000998685 RCV000764637 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.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.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 Merosin deficient congenital muscular dystrophy LAMA2-related disorder Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365613754	rs_1562451730	7 SubmittersRCV000760889 RCV001224973 RCV004569427 RCV004737998 RCV005047018
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)	SNV Germline	Chr6:129316068	Pathogenic	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365613657	rs_1180309541	5 SubmittersRCV000761500 RCV000798368
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 Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3992332	rs_368349321	5 SubmittersRCV000796526 RCV001152374 RCV000844997 RCV002495049 RCV003133612
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 Inborn genetic diseases Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3992636	rs_143626559	8 SubmittersRCV000795194 RCV001332433 RCV001558111 RCV002234253 RCV004027517 RCV002493454
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)	SNV Germline	Chr6:129320554	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	CA3993443	rs_749372185	3 SubmittersRCV000823492 RCV003130078 RCV002478931
NM_000426.4(LAMA2):c.6207C>A (p.Tyr2069Ter)	SNV Germline	Chr6:129440937	Pathogenic	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	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.3038-7G>A	SNV Germline	Chr6:129300729	Pathogenic/Likely pathogenic	LAMA2-related muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3993155	rs_767841898	3 SubmittersRCV000797341 RCV005047069
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	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA451935111	rs_1012171328	2 SubmittersRCV001408159 RCV001333434
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg)	SNV Germline	Chr6:129312921	Conflicting classifications of pathogenicity	Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	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.3172A>T (p.Lys1058Ter)	SNV Germline	Chr6:129300870	Likely pathogenic	Condition: not provided Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365611604	rs_1583447808	2 SubmittersRCV000998683 RCV001263637
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 not specified Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23 Condition: not provided	Criteria Provided Conflicting Classifications	CA3994316	rs_779326725	6 SubmittersRCV001063289 RCV001352917 RCV001553634 RCV001810493 RCV001815467
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)	SNV Germline	Chr6:129464337	Conflicting classifications of pathogenicity	LAMA2-related muscular dystrophy Condition: not provided Primary dilated cardiomyopathy Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994424	rs_529981007	5 SubmittersRCV001042574 RCV001726422 RCV001293066 RCV004720290
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)	SNV Germline	Chr6:129514398	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	CA3995015	rs_75048006	5 SubmittersRCV001055472 RCV001806002 RCV002482001
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 Condition: not provided LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994489	rs_199814707	5 SubmittersRCV001155018 RCV001509286 RCV001242334 RCV001329267
NM_000426.4(LAMA2):c.7898+12A>G	SNV Germline	Chr6:129486634	Conflicting classifications of pathogenicity	Congenital muscular dystrophy due to partial LAMA2 deficiency Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related muscular dystrophy	Criteria Provided Conflicting Classifications	CA3994684	rs_572960610	3 SubmittersRCV001151227 RCV002505728 RCV002557260
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.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.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.820-1G>A	SNV Germline	Chr6:129146958	Likely pathogenic	LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365606260	rs_1370654793	2 SubmittersRCV001237683 RCV003469444
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	Criteria Provided Multiple Submitters No Conflicts	CA365609957	rs_1789395190	2 SubmittersRCV001264204 RCV001880076
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 Unknown	Chr6:129366359	Likely pathogenic	Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Single Submitter	CA3993685	rs_762342110	1 SubmittersRCV001264093
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.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.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	2 SubmittersRCV001329269 RCV003574877
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.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.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.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.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.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.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.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.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.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 Merosin deficient congenital muscular dystrophy Qualitative or quantitative defects of merosin	Criteria Provided Multiple Submitters No Conflicts	CA146883477	rs_922640025	3 SubmittersRCV001994596 RCV003471134 RCV003225984
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)	SNV Germline	Chr6:129098213	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA365829125	rs_143680577	4 SubmittersRCV001940869 RCV003471076 RCV005031923 RCV004793622
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)	SNV Germline	Chr6:129401255	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	CA3993895	rs_373614496	3 SubmittersRCV002023664 RCV003134358 RCV002486726
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.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.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	Criteria Provided Multiple Submitters No Conflicts	CA365616606	rs_1424455269	2 SubmittersRCV001985194 RCV005031971
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.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.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 Muscular dystrophy, limb-girdle, autosomal recessive 23 Merosin deficient congenital muscular dystrophy LAMA2-related disorder LAMA2-related muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3994712	rs_201587923	6 SubmittersRCV002245524 RCV002496181 RCV004545264 RCV003093969 RCV003138119
NM_000426.4(LAMA2):c.8989-15T>G	SNV Unknown	Chr6:129514358	Likely pathogenic	Merosin deficient congenital muscular dystrophy	No Assertion Criteria Provided	CA3995005	rs_372370665	1 SubmittersRCV002254242
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 LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365607219	rs_1583169005	3 SubmittersRCV003471327 RCV003581818 RCV002309340
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	2 SubmittersRCV002466827 RCV004571169
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.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.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.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.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.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.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.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.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 LAMA2-related muscular dystrophy Merosin deficient congenital muscular dystrophy Muscular dystrophy, limb-girdle, autosomal recessive 23	Criteria Provided Multiple Submitters No Conflicts	CA365610376	rs_1276391947	3 SubmittersRCV003469901 RCV005100176 RCV005036812
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.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.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.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.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.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.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.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.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.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
Condition: not provided
LAMA2-related muscular dystrophy
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 RCV000790757 RCV001068136 RCV001794447 RCV002288491 RCV002513061 RCV004532360

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

SNV
Germline

Chr6:129353285

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123848

rs_121913575

6 SubmittersRCV000015369 RCV001203616 RCV000674731 RCV005357127

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

SNV
Germline

Chr6:129464444

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123851

rs_121913576

10 SubmittersRCV000015370 RCV000790693 RCV000179066 RCV002476971 RCV000654712 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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.184G>T (p.Gly62Ter)

SNV
Germline

Chr6:129049989

Pathogenic/Likely pathogenic

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

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.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.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
Merosin deficient congenital muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency

Criteria Provided
Conflicting Classifications

CA146139

rs_56173620

11 SubmittersRCV000078779 RCV000224783 RCV000525182 RCV000656110 RCV001258302 RCV001152792

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

SNV
Germline

Chr6:129427800

Pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital 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 SubmittersRCV000546384 RCV000178452 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

3 SubmittersRCV000078790 RCV000667651 RCV001085072

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

SNV
Germline

Chr6:129460287

Pathogenic

Merosin deficient congenital muscular dystrophy
Myalgia
Exercise-induced myalgia
Elevated circulating creatine kinase concentration
Condition: not provided
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220792

rs_398123383

10 SubmittersRCV000178685 RCV000626687 RCV000760398 RCV001202930

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

7 SubmittersRCV000078803 RCV000669930 RCV000809231 RCV003387755 RCV005031564

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.437C>T (p.Ser146Phe)

SNV
Germline

Chr6:129098213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA295383

rs_143680577

5 SubmittersRCV000674785 RCV000802006 RCV000505761

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

Criteria Provided
Conflicting Classifications

CA295389

rs_150394215

4 SubmittersRCV001040070 RCV001156262 RCV003133149 RCV002505140

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

Criteria Provided
Conflicting Classifications

CA295413

rs_117422805

12 SubmittersRCV000149994 RCV000723613 RCV000670870 RCV001084610 RCV001156369 RCV001252050 RCV005031655

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

SNV
Germline

Chr6:129314775

Conflicting classifications of pathogenicity

LAMA2-related muscular dystrophy
Intellectual disability
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
LAMA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA295392

rs_34505698

13 SubmittersRCV000550298 RCV001252051 RCV000712184 RCV000764624 RCV001156479 RCV001270116 RCV004532672 RCV005237585

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

SNV
Germline

Chr6:129465239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA295398

rs_147185142

9 SubmittersRCV002516011 RCV000549623 RCV000665052 RCV000724876 RCV001155019 RCV002492550

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

SNV
Germline

Chr6:129486612

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA295401

rs_727502851

5 SubmittersRCV000824022 RCV001781490 RCV000668682

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

Criteria Provided
Conflicting Classifications

CA295410

rs_146525742

7 SubmittersRCV000227406 RCV000674500 RCV000767113 RCV001154393 RCV000707347

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

Criteria Provided
Conflicting Classifications

CA246937

rs_201375881

13 SubmittersRCV000253869 RCV000515327 RCV000723450 RCV001084465 RCV001154395 RCV001810426 RCV002514873

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.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

9 SubmittersRCV000171401 RCV000696321 RCV000665977 RCV001375997 RCV005031701

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.2749+1G>C

SNV
Germline

Chr6:129288059

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275053

rs_759555791

5 SubmittersRCV000175397 RCV000724720 RCV000799916

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

SNV
Germline

Chr6:129349348

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

Criteria Provided
Conflicting Classifications

CA208965

rs_147077184

19 SubmittersRCV000194655 RCV000659062 RCV000509423 RCV000709620 RCV001081183 RCV001152676 RCV005396541 RCV004537432

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.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.7810C>T (p.Arg2604Ter)

SNV
Germline

Chr6:129486534

Pathogenic/Likely pathogenic

Condition: not provided
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

CA275319

rs_766920075

7 SubmittersRCV000179173 RCV001225446 RCV005031713 RCV003468868

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

SNV
Germline

Chr6:129503230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246861

rs_794727815

4 SubmittersRCV000179578 RCV002515279 RCV002492787 RCV005589784

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.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:129165672

Pathogenic/Likely pathogenic

LAMA2-related muscular dystrophy
Condition: not provided
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 SubmittersRCV000531230 RCV000224579 RCV000670070 RCV004799201

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588407

rs_746201268

5 SubmittersRCV000684848 RCV000255424 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
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23

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

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

CA3992309

rs_770617208

7 SubmittersRCV000553357 RCV000725186 RCV000316746 RCV003152703

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

SNV
Germline

Chr6:129316161

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

CA3993416

rs_756854513

9 SubmittersRCV000399363 RCV001390276 RCV000725563 RCV005031859

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

SNV
Germline

Chr6:129144078

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10605782

rs_886043648

3 SubmittersRCV000726019 RCV000326246 RCV005090373

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

SNV
Germline

Chr6:129391535

Pathogenic

Merosin deficient congenital muscular dystrophy
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

Criteria Provided
Multiple Submitters
No Conflicts

CA3993781

rs_758775001

7 SubmittersRCV000328095 RCV000726090 RCV000530826 RCV000763554 RCV003388578

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

Criteria Provided
Conflicting Classifications

CA3992592

rs_140604077

6 SubmittersRCV000270098 RCV000658392 RCV000546108 RCV002487557

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

SNV
Germline

Chr6:129383155

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3993749

rs_373997222

6 SubmittersRCV000364458 RCV000654755 RCV002461105 RCV003401370 RCV005398485

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

10 SubmittersRCV000284205 RCV000536495 RCV000712196 RCV000764631 RCV001293062 RCV003992282

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

Criteria Provided
Conflicting Classifications

CA3994926

rs_370843758

5 SubmittersRCV000294689 RCV000673324 RCV000691737 RCV002229896 RCV002487559

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

Criteria Provided
Conflicting Classifications

CA3993481

rs_144830879

5 SubmittersRCV000397163 RCV000695834 RCV000764626 RCV002520403 RCV003133244

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

Criteria Provided
Conflicting Classifications

CA3994372

rs_146854942

10 SubmittersRCV000376263 RCV000700908 RCV001266074 RCV000726647 RCV002487558

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

SNV
Germline

Chr6:129312930

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3993219

rs_146490004

7 SubmittersRCV000413698 RCV000557605 RCV001252052 RCV000764623 RCV001508557 RCV002523936

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

SNV
Germline

Chr6:129314799

Likely pathogenic

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

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.283+1G>A

SNV
Germline

Chr6:129050089

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

CA3992263

rs_200288072

7 SubmittersRCV000444644 RCV000665566 RCV000529392 RCV005044638

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16618242

rs_1064797040

6 SubmittersRCV000479998 RCV000674058 RCV001823143 RCV001851279

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

SNV
Germline

Chr6:129353358

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365618953

rs_1131691660

4 SubmittersRCV000654738 RCV000494223 RCV000664588

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

SNV
Germline

Chr6:129464371

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

CA3994436

rs_762806915

7 SubmittersRCV000498487 RCV000665940 RCV000815600 RCV000763555

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

SNV
Germline

Chr6:129507627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3994930

rs_143638361

6 SubmittersRCV000723578 RCV001086813 RCV001293224 RCV000764636

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

SNV
Germline

Chr6:129267114

Conflicting classifications of pathogenicity

not specified
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

CA3992869

rs_192317605

6 SubmittersRCV000501465 RCV000535129 RCV001153747 RCV001507679 RCV000665212 RCV001270112

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

SNV
Germline

Chr6:129464385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3994438

rs_371403343

6 SubmittersRCV000500474 RCV000557131 RCV001509285 RCV000764632 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.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

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

Criteria Provided
Conflicting Classifications

CA3994141

rs_142264176

4 SubmittersRCV000527643 RCV000509339 RCV001821424 RCV003133294

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

SNV
Germline

Chr6:129383105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA451934336

rs_758048596

7 SubmittersRCV003470642 RCV000513320 RCV001857325 RCV005044762

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.2477G>A (p.Arg826Gln)

SNV
Germline

Chr6:129280087

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3992959

rs_759973830

5 SubmittersRCV000518412 RCV000815597 RCV000764622

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

SNV
Germline

Chr6:129315952

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365613577

rs_1554269966

8 SubmittersRCV000015363 RCV000518321 RCV000985057 RCV000853232 RCV001857909 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
Abnormality of the musculature
Inborn genetic diseases
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3993804

rs_781376927

8 SubmittersRCV000516970 RCV000987774 RCV001068964 RCV001814178 RCV001267180 RCV005044769

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

SNV
Germline

Chr6:129492013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3994717

rs_780695627

5 SubmittersRCV000517410 RCV001154297 RCV000764634 RCV000823641 RCV003133298

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

SNV
Germline

Chr6:129149015

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
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.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.2240G>C (p.Gly747Ala)

SNV
Germline

Chr6:129267137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3992875

rs_139843107

3 SubmittersRCV000528186 RCV002483505 RCV003139866

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.8890G>T (p.Val2964Leu)

SNV
Germline

Chr6:129512395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3994959

rs_202159946

3 SubmittersRCV000527451 RCV001151351 RCV005398869

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.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.542A>G (p.Asn181Ser)

SNV
Germline

Chr6:129098318

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365607367

rs_1374568851

5 SubmittersRCV000553179 RCV000984281 RCV005034125 RCV004721444

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

Criteria Provided
Conflicting Classifications

CA3992685

rs_899353

5 SubmittersRCV000712181 RCV001083246 RCV001157938 RCV001333433

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.2T>C (p.Met1Thr)

SNV
Germline

Chr6:128883247

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA147234456

rs_374403765

7 SubmittersRCV000532735 RCV001090685 RCV000672881 RCV005357620

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

SNV
Germline

Chr6:129393215

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3993865

rs_141235562

4 SubmittersRCV000527012 RCV000764629 RCV003133364 RCV002526747

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.8920A>T (p.Thr2974Ser)

SNV
Germline

Chr6:129512425

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3994972

rs_140202046

6 SubmittersRCV000537632 RCV001291824 RCV000730617 RCV001291750 RCV002527941

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.437C>G (p.Ser146Cys)

SNV
Germline

Chr6:129098213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3992339

rs_143680577

6 SubmittersRCV000654711 RCV001572301 RCV004586852 RCV005392247

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

Criteria Provided
Conflicting Classifications

CA3993373

rs_758134778

3 SubmittersRCV000654730 RCV000764625 RCV004025934

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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA3994297

rs_757435241

3 SubmittersRCV000666889 RCV001219998 RCV005046864

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3994771

rs_749522728

8 SubmittersRCV000665939 RCV000809347 RCV000763557 RCV001597197

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

Criteria Provided
Multiple Submitters
No Conflicts

CA147269490

rs_1018100729

5 SubmittersRCV000673365 RCV001784282 RCV001208127 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
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

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
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

CA3992954

rs_993196576

6 SubmittersRCV000665168 RCV001091208 RCV001216650 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
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Intellectual disability
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3993615

rs_778106503

4 SubmittersRCV000667215 RCV000764627 RCV005626144 RCV002532062

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3994416

rs_200669208

3 SubmittersRCV000666010 RCV001037634 RCV005034239

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

Criteria Provided
Conflicting Classifications

CA3994961

rs_374888837

6 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
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy
Intellectual disability

Criteria Provided
Conflicting Classifications

CA3995048

rs_151049890

5 SubmittersRCV000703407 RCV000998685 RCV000764637 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.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.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
Merosin deficient congenital muscular dystrophy
LAMA2-related disorder
Muscular dystrophy, limb-girdle, autosomal recessive 23
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613754

rs_1562451730

7 SubmittersRCV000760889 RCV001224973 RCV004569427 RCV004737998 RCV005047018

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

SNV
Germline

Chr6:129316068

Pathogenic

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365613657

rs_1180309541

5 SubmittersRCV000761500 RCV000798368

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

Criteria Provided
Conflicting Classifications

CA3992332

rs_368349321

5 SubmittersRCV000796526 RCV001152374 RCV000844997 RCV002495049 RCV003133612

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

Criteria Provided
Conflicting Classifications

CA3992636

rs_143626559

8 SubmittersRCV000795194 RCV001332433 RCV001558111 RCV002234253 RCV004027517 RCV002493454

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

SNV
Germline

Chr6:129320554

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

CA3993443

rs_749372185

3 SubmittersRCV000823492 RCV003130078 RCV002478931

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

SNV
Germline

Chr6:129440937

Pathogenic

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

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.3038-7G>A

SNV
Germline

Chr6:129300729

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3993155

rs_767841898

3 SubmittersRCV000797341 RCV005047069

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

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA451935111

rs_1012171328

2 SubmittersRCV001408159 RCV001333434

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

SNV
Germline

Chr6:129312921

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy

Criteria Provided
Conflicting Classifications

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.3172A>T (p.Lys1058Ter)

SNV
Germline

Chr6:129300870

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365611604

rs_1583447808

2 SubmittersRCV000998683 RCV001263637

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

Criteria Provided
Conflicting Classifications

CA3994316

rs_779326725

6 SubmittersRCV001063289 RCV001352917 RCV001553634 RCV001810493 RCV001815467

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

SNV
Germline

Chr6:129464337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3994424

rs_529981007

5 SubmittersRCV001042574 RCV001726422 RCV001293066 RCV004720290

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

SNV
Germline

Chr6:129514398

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

CA3995015

rs_75048006

5 SubmittersRCV001055472 RCV001806002 RCV002482001

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

Criteria Provided
Conflicting Classifications

CA3994489

rs_199814707

5 SubmittersRCV001155018 RCV001509286 RCV001242334 RCV001329267

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

SNV
Germline

Chr6:129486634

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3994684

rs_572960610

3 SubmittersRCV001151227 RCV002505728 RCV002557260

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.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.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.820-1G>A

SNV
Germline

Chr6:129146958

Likely pathogenic

LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365606260

rs_1370654793

2 SubmittersRCV001237683 RCV003469444

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365609957

rs_1789395190

2 SubmittersRCV001264204 RCV001880076

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
Unknown

Chr6:129366359

Likely pathogenic

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

Criteria Provided
Single Submitter

CA3993685

rs_762342110

1 SubmittersRCV001264093

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.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.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

2 SubmittersRCV001329269 RCV003574877

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.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.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.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.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.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.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.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.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.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
Merosin deficient congenital muscular dystrophy
Qualitative or quantitative defects of merosin

Criteria Provided
Multiple Submitters
No Conflicts

CA146883477

rs_922640025

3 SubmittersRCV001994596 RCV003471134 RCV003225984

NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)

SNV
Germline

Chr6:129098213

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA365829125

rs_143680577

4 SubmittersRCV001940869 RCV003471076 RCV005031923 RCV004793622

NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)

SNV
Germline

Chr6:129401255

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

CA3993895

rs_373614496

3 SubmittersRCV002023664 RCV003134358 RCV002486726

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.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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA365616606

rs_1424455269

2 SubmittersRCV001985194 RCV005031971

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

Criteria Provided
Conflicting Classifications

CA3994712

rs_201587923

6 SubmittersRCV002245524 RCV002496181 RCV004545264 RCV003093969 RCV003138119

NM_000426.4(LAMA2):c.8989-15T>G

SNV
Unknown

Chr6:129514358

Likely pathogenic

Merosin deficient congenital muscular dystrophy

No Assertion Criteria Provided

CA3995005

rs_372370665

1 SubmittersRCV002254242

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365607219

rs_1583169005

3 SubmittersRCV003471327 RCV003581818 RCV002309340

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

2 SubmittersRCV002466827 RCV004571169

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365610376

rs_1276391947

3 SubmittersRCV003469901 RCV005100176 RCV005036812

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.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.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.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.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.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.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.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.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