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: chr5:53108556:G>A
 
ClinVar:           chr5:53108556:G>A 		NM_176806.4(MOCS2):c.106C>T (p.Gln36Ter) SNV
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV002007215
IndiGenomes: chr5:53109716:CACAGCGGCACCATCCCGCCTAGG>C
 
ClinVar:           chr5:53109716:C>T 		NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr) SNV
Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV000305729RCV000998389