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: chr16:1526057:G>A
 
ClinVar:           chr16:1526057:G>C 		NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) SNV
Likely pathogenic Condition: not provided
Retinitis pigmentosa 80
Saldino-Mainzer syndrome
Autosomal dominant polycystic kidney disease
IFT140-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000760741RCV002500984RCV005250107RCV004753029
IndiGenomes: chr16:1580831:C>A
 
ClinVar:           chr16:1580831:C>T 		NM_014714.4(IFT140):c.1452G>A (p.Thr484=) SNV
Conflicting classifications of pathogenicity Saldino-Mainzer syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001118407
IndiGenomes: chr16:1583370:C>G
 
ClinVar:           chr16:1583370:C>G 		NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) SNV
Conflicting classifications of pathogenicity Saldino-Mainzer syndrome
Saldino-Mainzer syndrome
Retinitis pigmentosa 80		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002048657RCV002486725