ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1536G>A (p.Thr512=)

gnomAD frequency: 0.00004  dbSNP: rs774052068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597261 SCV000706167 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000801863 SCV000941661 likely benign Biotinidase deficiency 2023-11-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000801863 SCV002081579 uncertain significance Biotinidase deficiency 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003962699 SCV004788888 likely benign BTD-related disorder 2023-10-06 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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