ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1650G>A (p.Leu550=)

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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 RCV003617019 SCV004475141 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-11-04 criteria provided, single submitter clinical testing

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