ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1297C>G (p.Leu433Val)

gnomAD frequency: 0.00009  dbSNP: rs201693608
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951013 SCV001097364 likely benign Metachromatic leukodystrophy 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000951013 SCV002081637 likely benign Metachromatic leukodystrophy 2020-02-14 no assertion criteria provided clinical testing

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