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: chr1:102995999:C>T
 
ClinVar:           chr1:102995999:C>T
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) SNV
Conflicting classifications of pathogenicity Condition: not provided
Marshall syndrome
Stickler syndrome type 2
Intervertebral disc disorder
Hearing loss, autosomal dominant 37
Fibrochondrogenesis 1
Marshall syndrome
Stickler syndrome type 2
Hearing loss, autosomal dominant 37
Fibrochondrogenesis 1
Hearing loss, autosomal dominant 37
Criteria Provided
Conflicting Classifications

5 SubmittersRCV001878497RCV002478131RCV005361770RCV004584929