ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.450C>A (p.His150Gln)

dbSNP: rs757752213
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000688161 SCV000815763 uncertain significance Sphingolipid activator protein 1 deficiency 2021-08-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830492 SCV002087075 uncertain significance Metachromatic leukodystrophy 2020-10-22 no assertion criteria provided clinical testing

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