ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.864C>T (p.Ala288=)

gnomAD frequency: 0.00007  dbSNP: rs747491605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926233 SCV001071793 likely benign Sphingolipid activator protein 1 deficiency 2025-01-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413728 SCV004126763 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PSAP: BP4, BP7
Natera, Inc. RCV001272676 SCV001454915 uncertain significance Metachromatic leukodystrophy 2020-01-24 no assertion criteria provided clinical testing

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