ClinVar Miner

Submissions for variant NM_001701.4(BAAT):c.1173C>T (p.His391=)

gnomAD frequency: 0.00021  dbSNP: rs113673597
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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) RCV000408442 SCV000344927 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000408442 SCV005818575 likely benign not provided 2024-06-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910039 SCV004725275 likely benign BAAT-related disorder 2023-06-26 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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