ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.16C>T (p.Leu6Phe)

gnomAD frequency: 0.00269  dbSNP: rs148279196
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974739 SCV001122592 benign Sphingolipid activator protein 1 deficiency 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736945 SCV004562250 likely benign not provided 2023-09-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918568 SCV004744951 likely benign PSAP-related disorder 2021-01-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001272682 SCV001454921 likely benign Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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