ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.909+32G>T

gnomAD frequency: 0.06451  dbSNP: rs41307569
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247827 SCV000309198 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538045 SCV001755051 benign Combined PSAP deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538046 SCV001755052 benign Krabbe disease due to saposin A deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538047 SCV001755053 benign Sphingolipid activator protein 1 deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001610631 SCV001838254 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610631 SCV005321848 benign not provided criteria provided, single submitter not provided

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