ClinVar Miner

Submissions for variant NM_014975.3(MAST1):c.4031C>A (p.Pro1344Gln)

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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 RCV002581634 SCV003487410 benign not provided 2024-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918902 SCV004735820 likely benign MAST1-related disorder 2022-05-27 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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