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: chr3:196306998:G>A
 
ClinVar:           chr3:196306998:G>A
NM_152773.5(DYNLT2B):c.262C>T (p.Arg88Ter) SNV
Pathogenic Short-rib thoracic dysplasia 17 with or without polydactyly
Condition: not provided
Criteria Provided
Single Submitter

2 SubmittersRCV000477693RCV001383713