ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1193-26G>A

dbSNP: rs3747860
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250338 SCV000309193 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538040 SCV001755045 benign Combined PSAP deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538041 SCV001755046 benign Krabbe disease due to saposin A deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538042 SCV001755047 benign Sphingolipid activator protein 1 deficiency 2021-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676141 SCV000801887 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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