ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1868G>A (p.Arg623His) (rs201734382)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228885 SCV000288199 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764758 SCV000895896 uncertain significance Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000121934 SCV000086139 not provided not specified 2013-09-19 no assertion provided reference population

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