ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.510C>T (p.Cys170=)

gnomAD frequency: 0.00002  dbSNP: rs1483727422
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000978192 SCV001126118 likely benign Metachromatic leukodystrophy 2023-09-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000978192 SCV001456238 uncertain significance Metachromatic leukodystrophy 2020-02-13 no assertion criteria provided clinical testing

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