ClinVar Miner

Submissions for variant NM_014753.4(BMS1):c.641C>T (p.Ala214Val)

gnomAD frequency: 0.00121  dbSNP: rs141772670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909431 SCV001054235 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000909431 SCV005317078 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003932955 SCV004753811 likely benign BMS1-related disorder 2020-06-12 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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