ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.159A>T (p.Thr53=)

dbSNP: rs150354424
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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 RCV002540062 SCV001030616 likely benign H syndrome 2024-10-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975588 SCV004790487 likely benign SLC29A3-related disorder 2019-02-28 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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