ClinVar Miner

Submissions for variant NM_001080508.3(TBX18):c.128C>T (p.Ala43Val)

gnomAD frequency: 0.00151  dbSNP: rs375648531
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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 RCV000912956 SCV001058086 benign not provided 2024-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913036 SCV004728398 benign TBX18-related disorder 2022-11-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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