ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1233G>A (p.Val411=)

dbSNP: rs751867103
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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 RCV001416264 SCV001618443 likely benign Sphingolipid activator protein 1 deficiency 2022-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272672 SCV001454911 uncertain significance Metachromatic leukodystrophy 2020-03-10 no assertion criteria provided clinical testing

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