ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1350+5G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005046407 SCV005680436 uncertain significance Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Parkinson disease 24, autosomal dominant, susceptibility to 2024-01-05 criteria provided, single submitter clinical testing

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