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: chr6:33165783:T>C
 
ClinVar:           chr6:33165783:T>C 		NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val) SNV
Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001882195RCV002554176
IndiGenomes: chr6:33173902:G>A
 
ClinVar:           chr6:33173902:G>A 		NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) SNV
Pathogenic/Likely pathogenic Condition: not provided
COL11A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001946767RCV003408012
IndiGenomes: chr6:33184296:G>GT
 
ClinVar:           chr6:33184296:G>GT 		NM_080680.3(COL11A2):c.967dup (p.Thr323fs) Duplication
Conflicting classifications of pathogenicity Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal dominant		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV001999772RCV003989739