ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.406G>A (p.Ala136Thr)

gnomAD frequency: 0.00002  dbSNP: rs773964967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698216 SCV000530735 uncertain significance not provided 2022-10-21 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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