ClinVar Miner

Submissions for variant NM_032040.5(CCDC8):c.43C>G (p.Arg15Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi RCV003228725 SCV003925546 uncertain significance 3M syndrome 3 criteria provided, single submitter research

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