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: chr12:76345993:T>C
 
ClinVar:           chr12:76345993:T>C 		NM_024685.4(BBS10):c.1992A>G (p.Ala664=) SNV
Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10
BBS10-related disorder
Bardet-Biedl syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV001111719RCV004740570RCV001438649