ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) (rs201404751)

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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 RCV000117215 SCV000151380 uncertain significance not provided 2014-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000599889 SCV000725374 likely benign not specified 2017-12-22 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.
Invitae RCV001520721 SCV001729896 benign Mental retardation 3, X-linked 2020-10-21 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000117215 SCV001798028 likely benign not provided no assertion criteria provided clinical testing

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