ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) (rs36078464)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121952 SCV000226926 benign not specified 2015-02-04 criteria provided, single submitter clinical testing
Invitae RCV000232515 SCV000288263 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121952 SCV000310037 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232515 SCV001155567 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
ITMI RCV000121952 SCV000086159 not provided not specified 2013-09-19 no assertion provided reference population

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