ClinVar Miner

Submissions for variant NM_001701.4(BAAT):c.9G>A (p.Gln3=)

dbSNP: rs149369902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000358285 SCV000344248 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000358285 SCV003280397 likely benign not provided 2022-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004755848 SCV005347846 likely benign BAAT-related disorder 2024-04-17 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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