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: chr11:71444162:G>A
 
ClinVar:           chr11:71444162:G>A 		NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu) SNV
Likely pathogenic Smith-Lemli-Opitz syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003618571