ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.41-17_41-9dup

gnomAD frequency: 0.00005  dbSNP: rs768077397
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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 RCV001483515 SCV001687909 likely benign Sphingolipid activator protein 1 deficiency 2023-07-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277795 SCV001464764 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938594 SCV004753117 likely benign PSAP-related disorder 2019-06-21 no assertion criteria provided 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).

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