ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1564C>T (p.Arg522Cys) (rs35407712)

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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 RCV000121974 SCV000233065 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
ITMI RCV000121974 SCV000086183 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000226182 SCV000288181 benign Baller-Gerold syndrome 2017-08-09 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210802 SCV000267086 benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing

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