ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1005+18C>T

gnomAD frequency: 0.13764  dbSNP: rs55829339
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080033 SCV000111927 benign not specified 2013-08-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080033 SCV000309191 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001511826 SCV001719134 benign Sphingolipid activator protein 1 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538043 SCV001755048 benign Combined PSAP deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538044 SCV001755049 benign Krabbe disease due to saposin A deficiency 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511826 SCV001755050 benign Sphingolipid activator protein 1 deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000676143 SCV001909811 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676143 SCV000801889 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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