ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) (rs146709578)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000121965 SCV000257948 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing
ITMI RCV000121965 SCV000086172 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000233286 SCV000288289 benign Baller-Gerold syndrome 2018-01-12 criteria provided, single submitter clinical testing

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