Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr6:129165623:A>T
 
ClinVar:           chr6:129165623:CA>C 		NM_000426.4(LAMA2):c.1255del (p.Ile419fs) Deletion
Pathogenic Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000987768RCV001065129RCV001813808
IndiGenomes: chr6:129314798:G>A
 
ClinVar:           chr6:129314798:G>A 		NM_000426.4(LAMA2):c.3555G>A (p.Trp1185Ter) SNV
Pathogenic LAMA2-related muscular dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV003573556
IndiGenomes: chr6:129315918:C>T
 
ClinVar:           chr6:129315918:C>T 		NM_000426.4(LAMA2):c.3892C>T (p.Gln1298Ter) SNV
Pathogenic LAMA2-related muscular dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005117416
IndiGenomes: chr6:129316041:G>T
 
ClinVar:           chr6:129316041:G>T 		NM_000426.4(LAMA2):c.3928G>T (p.Glu1310Ter) SNV
Pathogenic LAMA2-related muscular dystrophy
Merosin deficient congenital muscular dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001219254RCV004570502
IndiGenomes: chr6:129369910:C>G
 
ClinVar:           chr6:129369910:C>T 		NM_000426.4(LAMA2):c.4879C>T (p.Arg1627Trp) SNV
Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002644020RCV003319243
IndiGenomes: chr6:129454252:T>C
 
ClinVar:           chr6:129454252:T>C 		NM_000426.4(LAMA2):c.6671T>C (p.Ile2224Thr) SNV
Conflicting classifications of pathogenicity Condition: not provided
LAMA2-related muscular dystrophy		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001172177RCV001873589
IndiGenomes: chr6:129465220:G>A
 
ClinVar:           chr6:129465220:G>A 		NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) SNV
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

5 SubmittersRCV001155018RCV001509286RCV001242334RCV001329267