ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) (rs61755066)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121955 SCV000227675 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Invitae RCV001082609 SCV000288268 benign Baller-Gerold syndrome 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121955 SCV000310040 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000229735 SCV001155565 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000229735 SCV001772862 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27247962, 29220673, 24728327)
ITMI RCV000121955 SCV000086162 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000229735 SCV001798381 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000229735 SCV001809133 likely benign not provided no assertion criteria provided clinical testing

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