ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.6C>T (p.Tyr2=)

gnomAD frequency: 0.00004  dbSNP: rs774482765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967851 SCV001115272 likely benign Sphingolipid activator protein 1 deficiency 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272683 SCV001454922 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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