ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1432-22C>T

gnomAD frequency: 0.34727  dbSNP: rs885828
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538005 SCV001754985 benign Combined PSAP deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538006 SCV001754986 benign Krabbe disease due to saposin A deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538007 SCV001754987 benign Sphingolipid activator protein 1 deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000676138 SCV001846929 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676138 SCV000801884 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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