ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) (rs3027884)

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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 RCV000193244 SCV000247547 likely benign not specified 2016-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000193244 SCV000340014 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000193244 SCV000589917 likely benign not specified 2017-07-05 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 RCV000969004 SCV001116495 likely benign Mental retardation 3, X-linked 2019-12-31 criteria provided, single submitter clinical testing

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