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: chr11:66511012:G>T
 
ClinVar:           chr11:66511012:G>T 		NM_024649.5(BBS1):c.48-1G>T SNV
Pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV000666501RCV001861753
IndiGenomes: chr11:66531742:G>A
 
ClinVar:           chr11:66531742:G>A 		NM_024649.5(BBS1):c.1695G>A (p.Lys565=) SNV
Likely pathogenic Bardet-Biedl syndrome 1
Bardet-Biedl syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV000673043RCV003222093