ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1073G>T (p.Arg358Leu)

dbSNP: rs752771480
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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 RCV001225734 SCV001398023 uncertain significance Multiple gastrointestinal atresias 2021-08-28 criteria provided, single submitter clinical testing
GeneDx RCV004794508 SCV005414673 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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