ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) (rs35198096)

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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 RCV000121958 SCV000229027 benign not specified 2016-06-28 criteria provided, single submitter clinical testing
Invitae RCV001081911 SCV000288183 benign Baller-Gerold syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000444390 SCV000510978 likely benign not provided 2016-12-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ITMI RCV000121958 SCV000086165 not provided not specified 2013-09-19 no assertion provided reference population

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