ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1281C>T (p.Ser427=)

gnomAD frequency: 0.00004  dbSNP: rs529776324
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000925688 SCV001071237 benign Sphingolipid activator protein 1 deficiency 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579113 SCV001806516 likely benign Krabbe disease due to saposin A deficiency 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000925688 SCV001806517 likely benign Sphingolipid activator protein 1 deficiency 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579247 SCV001806706 likely benign Combined PSAP deficiency 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272670 SCV001454909 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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