ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859902 SCV000627143 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000540770 SCV000800480 uncertain significance Metachromatic leukodystrophy 2017-01-31 criteria provided, single submitter clinical testing
OMIM RCV000003215 SCV000023373 pathogenic Arylsulfatase A pseudodeficiency 2018-11-07 no assertion criteria provided literature only

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