ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.14129C>G (p.Ser4710Cys) (rs147662558)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442602 SCV000523035 benign not specified 2016-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283500 SCV001157461 benign none provided 2020-07-30 criteria provided, single submitter clinical testing
Invitae RCV001517628 SCV001726165 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001517628 SCV001799847 likely benign not provided no assertion criteria provided clinical testing

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