ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) (rs200516441)

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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 RCV000178209 SCV000230228 benign not specified 2014-12-09 criteria provided, single submitter clinical testing
Invitae RCV000231761 SCV000288243 benign Baller-Gerold syndrome 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000828311 SCV000969996 likely benign not provided 2018-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000828311 SCV001109440 benign not provided 2018-12-19 criteria provided, single submitter clinical testing
ITMI RCV000178209 SCV000086167 not provided not specified 2013-09-19 no assertion provided reference population

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