ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly)

gnomAD frequency: 0.00004  dbSNP: rs760597864
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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 RCV000193561 SCV000247433 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517075 SCV003709204 likely benign Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572778 SCV001797669 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572778 SCV001973487 likely benign not provided no assertion criteria provided clinical testing

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