ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.2557_2562TGCACC[4] (p.853_854CT[4]) (rs548804317)

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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 RCV000174889 SCV000226282 likely benign not specified 2015-06-09 criteria provided, single submitter clinical testing
Invitae RCV001081460 SCV000288233 benign Baller-Gerold syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436226 SCV000511530 likely benign not provided 2016-12-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.

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