ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.990C>T (p.His330=)

gnomAD frequency: 0.00001  dbSNP: rs768366772
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001279639 SCV001696964 likely benign Metachromatic leukodystrophy 2024-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279639 SCV001466752 likely benign Metachromatic leukodystrophy 2020-09-08 no assertion criteria provided clinical testing

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