ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2731G>T (p.Ala911Ser)

gnomAD frequency: 0.00009  dbSNP: rs557426457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754463 SCV001988470 benign not provided 2021-07-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003976152 SCV004792370 likely benign TCOF1-related disorder 2021-03-02 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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