ClinVar Miner

Submissions for variant NM_014975.3(MAST1):c.1548C>T (p.Phe516=)

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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 RCV003052999 SCV003446896 benign not provided 2023-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003052999 SCV004137914 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing MAST1: BP4, BP7

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