ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) (rs74315466)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540770 SCV000627143 likely benign Metachromatic leukodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000540770 SCV000800480 uncertain significance Metachromatic leukodystrophy 2017-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000540770 SCV001305141 uncertain significance Metachromatic leukodystrophy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000003215 SCV000023373 pathogenic Arylsulfatase A pseudodeficiency 2018-11-07 no assertion criteria provided literature only
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251908 SCV001427654 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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