ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1017C>T (p.Leu339=)

gnomAD frequency: 0.00006  dbSNP: rs146778046
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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 RCV000943030 SCV001088969 likely benign Sphingolipid activator protein 1 deficiency 2024-02-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272674 SCV001454913 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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