ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1173G>A (p.Thr391=)

gnomAD frequency: 0.00001  dbSNP: rs368085481
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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 RCV001434507 SCV001637316 likely benign Sphingolipid activator protein 1 deficiency 2023-08-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280269 SCV001467434 uncertain significance Metachromatic leukodystrophy 2020-06-16 no assertion criteria provided clinical testing

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