ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.153C>T (p.Thr51=)

gnomAD frequency: 0.00002  dbSNP: rs11555016
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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 RCV000907141 SCV001051829 likely benign Sphingolipid activator protein 1 deficiency 2024-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884798 SCV004701388 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing PSAP: BP4, BP7
Natera, Inc. RCV001272681 SCV001454920 uncertain significance Metachromatic leukodystrophy 2020-03-10 no assertion criteria provided clinical testing

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