ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.251-11C>A

gnomAD frequency: 0.00001  dbSNP: rs377424990
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081574 SCV002427953 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002081574 SCV005668698 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-04-01 criteria provided, single submitter clinical testing

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