ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.565G>A (p.Gly189Ser) (rs34371341)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080897 SCV000112799 benign not specified 2013-07-26 criteria provided, single submitter clinical testing
ITMI RCV000080897 SCV000086176 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000462195 SCV000557728 benign Baller-Gerold syndrome 2017-12-11 criteria provided, single submitter clinical testing

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