ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735350 SCV000854504 uncertain significance Tongue tie; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect criteria provided, single submitter clinical testing

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