ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1548G>A (p.Pro516=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002736756 SCV003010200 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903769 SCV004721665 likely benign MOCS1-related disorder 2022-05-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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