ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.675C>T (p.Asn225=)

gnomAD frequency: 0.00011  dbSNP: rs138960787
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506468 SCV001711390 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-11-26 criteria provided, single submitter clinical testing

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