ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.852C>T (p.Pro284=)

gnomAD frequency: 0.00005  dbSNP: rs370435627
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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 RCV000924634 SCV001070152 likely benign Sphingolipid activator protein 1 deficiency 2024-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272677 SCV001454916 uncertain significance Metachromatic leukodystrophy 2020-03-10 no assertion criteria provided clinical testing

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