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: chr13:101073631:G>A
 
ClinVar:           chr13:101073631:G>A 		NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter) SNV
Pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
NALCN-related disorder
Congenital contractures of the limbs and face, hypotonia, and developmental delay		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000845225RCV003336223RCV003984848