ClinVar Miner

Submissions for variant NM_001701.4(BAAT):c.602G>A (p.Arg201His)

dbSNP: rs41281027
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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) RCV000338594 SCV000342573 benign not specified 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090386 SCV005729517 likely benign not provided 2024-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940053 SCV004748092 likely benign BAAT-related disorder 2021-12-09 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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