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: chr4:169406633:C>A
 
ClinVar:           chr4:169406633:C>A 		NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter) SNV
Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001291528RCV003127762
IndiGenomes: chr4:169479406:G>T
 
ClinVar:           chr4:169479406:G>A 		NM_001199397.3(NEK1):c.2136C>T (p.Gly712=) SNV
Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly Criteria Provided
Conflicting Classifications

2 SubmittersRCV001148832