ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1772C>T (p.Pro591Leu) (rs2721191)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121932 SCV000225334 benign not specified 2015-01-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121932 SCV000310030 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000468862 SCV000557697 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
ITMI RCV000121932 SCV000086137 not provided not specified 2013-09-19 no assertion provided reference population

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