ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1389C>T (p.Ile463=)

gnomAD frequency: 0.00005  dbSNP: rs762811199
Minimum review status: Collection method:
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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 RCV000918601 SCV001063917 likely benign Sphingolipid activator protein 1 deficiency 2024-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825850 SCV002086942 likely benign Metachromatic leukodystrophy 2020-10-28 no assertion criteria provided clinical testing

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