ClinVar Miner

Submissions for variant NM_024582.4(FAT4):c.10847C>T (p.Thr3616Met) (rs111423173)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239280 SCV000297315 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000239280 SCV000512985 likely benign not specified 2017-03-09 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.
Invitae RCV000882277 SCV001025505 benign not provided 2020-11-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000882277 SCV001154282 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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