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: chr14:23420204:C>T
 
ClinVar:           chr14:23420204:C>G
NM_000257.4(MYH7):c.3367G>C (p.Glu1123Gln) SNV
Conflicting classifications of pathogenicity Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001757370RCV005095057RCV004009031

IndiGenomes: chr14:23426823:A>G
 
ClinVar:           chr14:23426823:A>T
NM_000257.4(MYH7):c.1998T>A (p.His666Gln) SNV
Likely pathogenic Dilated cardiomyopathy 1S No Assertion Criteria Provided

1 SubmittersRCV002291237

IndiGenomes: chr14:23429784:C>T
 
ClinVar:           chr14:23429784:C>G
NM_000257.4(MYH7):c.1129G>C (p.Gly377Arg) SNV
Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Criteria Provided
Conflicting Classifications

5 SubmittersRCV001918608RCV002324315RCV003533053