ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.570G>A (p.Gln190=)

dbSNP: rs142272618
Minimum review status: Collection method:
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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 RCV000906856 SCV001051520 likely benign Sphingolipid activator protein 1 deficiency 2024-10-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825825 SCV002087064 likely benign Metachromatic leukodystrophy 2021-02-23 no assertion criteria provided clinical testing

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