ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.624T>C (p.His208=) (rs113990230)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247255 SCV000304461 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365831 SCV000439438 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000247255 SCV000512102 benign not specified 2016-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000870957 SCV001012536 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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