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: chr7:128840117:G>A
 
ClinVar:           chr7:128840117:AGGGTGCCGGCAGC>A 		NM_001458.5(FLNC):c.1509_1521del (p.Ala504fs) Deletion
Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter

1 SubmittersRCV004511024
IndiGenomes: chr7:128844048:G>A
 
ClinVar:           chr7:128844048:AG>A 		NM_001458.5(FLNC):c.2977del (p.Ala993fs) Deletion
Pathogenic Dilated Cardiomyopathy, Dominant
Myofibrillar myopathy 5
Distal myopathy with posterior leg and anterior hand involvement
Hypertrophic cardiomyopathy 26		 Criteria Provided
Single Submitter

1 SubmittersRCV002908873
IndiGenomes: chr7:128854545:C>T
 
ClinVar:           chr7:128854545:C>T 		NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met) SNV
Conflicting classifications of pathogenicity Cardiovascular phenotype
Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Hypertrophic cardiomyopathy 26
Dilated Cardiomyopathy, Dominant		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002366129RCV001298922