ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1008C>T (p.Gly336=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002607359 SCV003507076 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973702 SCV004793924 likely benign SPTB-related disorder 2019-02-19 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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