ClinVar Miner

Submissions for variant NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003457103 SCV004184360 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CELSR1: BP4, BS1
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine RCV004556101 SCV005045334 benign Bladder exstrophy-epispadias-cloacal extrophy complex criteria provided, single submitter research

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