ClinVar Miner

Submissions for variant NM_014975.3(MAST1):c.3366T>C (p.Asp1122=)

gnomAD frequency: 0.00250  dbSNP: rs148457369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263139 SCV002546068 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing MAST1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002263139 SCV003263077 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973368 SCV004788522 benign MAST1-related disorder 2020-01-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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