ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) (rs138682847)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000711161 SCV000230953 uncertain significance not provided 2015-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000711161 SCV000240421 benign not provided 2019-10-25 criteria provided, single submitter clinical testing
Invitae RCV001080185 SCV000562067 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-06-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711161 SCV000841491 likely benign not provided 2017-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717606 SCV000848459 likely benign Seizures 2018-07-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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