ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.388G>A (p.Ala130Thr)

gnomAD frequency: 0.00095  dbSNP: rs139449383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192896 SCV000247438 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Invitae RCV000958468 SCV001105315 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000958468 SCV001799654 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000958468 SCV001975243 likely benign not provided no assertion criteria provided clinical testing

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