ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) (rs112585933)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000232314 SCV000240552 benign not provided 2019-04-23 criteria provided, single submitter clinical testing
Invitae RCV001085886 SCV000285618 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000186980 SCV000612741 benign not specified 2017-03-16 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000186980 SCV000864324 likely benign not specified 2017-10-19 criteria provided, single submitter clinical testing BP4, BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000232314 SCV001147431 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing

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