ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1341C>T (p.Tyr447=)

gnomAD frequency: 0.00003  dbSNP: rs572916661
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 RCV001490194 SCV001694753 likely benign Sphingolipid activator protein 1 deficiency 2024-03-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832639 SCV002086964 likely benign Metachromatic leukodystrophy 2021-10-18 no assertion criteria provided clinical testing

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