ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) (rs376049260)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194960 SCV000247549 uncertain significance not specified 2014-09-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000194960 SCV000603950 likely benign not specified 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000194960 SCV000716651 likely benign not specified 2017-03-14 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 RCV000638561 SCV000760088 benign Mental retardation 3, X-linked 2020-11-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000194960 SCV001929518 benign not specified no assertion criteria provided clinical testing

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