ClinVar Miner

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

gnomAD frequency: 0.14035  dbSNP: rs55829339
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Total submissions: 9
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001511826 SCV001719134 benign Sphingolipid activator protein 1 deficiency 2025-02-04 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
Breakthrough Genomics, Breakthrough Genomics RCV000676143 SCV005321847 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676143 SCV000801889 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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