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: chr4:127965119:C>T
 
ClinVar:           chr4:127965119:C>T
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) SNV
Conflicting classifications of pathogenicity Condition: not provided
Neuronal ceroid lipofuscinosis 7
Criteria Provided
Conflicting Classifications

3 SubmittersRCV000732646RCV001472943