ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470159 SCV004193245 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-10-28 criteria provided, single submitter clinical testing
OMIM RCV003470159 SCV005421034 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-12-09 no assertion criteria provided literature only

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