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: chr8:67105943:A>T
 
ClinVar:           chr8:67105943:A>G 		NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) SNV
Conflicting classifications of pathogenicity Joubert syndrome 21
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV000703006RCV001562297
IndiGenomes: chr8:67149936:GTTTTTAATCACTTTTTTT>G
 
ClinVar:           chr8:67149936:G>A 		NM_001382391.1(CSPP1):c.2128+1G>A SNV
Likely pathogenic Joubert syndrome 21 Criteria Provided
Single Submitter

1 SubmittersRCV001377061