ClinVar Miner

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

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Total submissions: 6
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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 RCV001573815 SCV000589917 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000969004 SCV001116495 likely benign Mental retardation 3, X-linked 2020-10-19 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573815 SCV001800213 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000193244 SCV001928169 benign not specified no assertion criteria provided clinical testing

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