ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.636C>T (p.Ala212=)

gnomAD frequency: 0.00021  dbSNP: rs200182983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078950 SCV000110811 benign not specified 2012-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078950 SCV000304462 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000871089 SCV001012690 benign Metachromatic leukodystrophy 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310817 SCV001500764 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ARSA: BP4, BP7

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