ClinVar Miner

Submissions for variant NM_001543.5(NDST1):c.760G>A (p.Ala254Thr)

gnomAD frequency: 0.00083  dbSNP: rs146548363
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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 RCV000897647 SCV001041802 likely benign not provided 2024-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000897647 SCV005401509 uncertain significance not provided 2024-05-17 criteria provided, single submitter clinical testing In silico analysis indicates 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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