ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.493G>A (p.Val165Ile)

gnomAD frequency: 0.00134  dbSNP: rs146054276
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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 RCV000921671 SCV001067081 benign not provided 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000921671 SCV002569719 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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