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: chr6:39907116:C>T
 
ClinVar:           chr6:39907116:ACT>A
NC_000006.12:g.39907116CT[1] Microsatellite
Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Criteria Provided
Single Submitter

1 SubmittersRCV003617086

IndiGenomes: chr6:39925795:G>C
 
ClinVar:           chr6:39925795:G>A
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) SNV
Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Criteria Provided
Conflicting Classifications

2 SubmittersRCV001154616