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: chr14:58427638:G>C
 
ClinVar:           chr14:58427638:G>A 		NM_001244189.2(KIAA0586):c.9+1G>A SNV
Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV001280787RCV001871620
IndiGenomes: chr14:58460989:C>A
 
ClinVar:           chr14:58460989:C>CT 		NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs) Duplication
Pathogenic Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly		 Criteria Provided
Single Submitter

1 SubmittersRCV003036178