ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.294+28G>A

gnomAD frequency: 0.00072  dbSNP: rs376078367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833792 SCV000975556 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000833792 SCV002545604 benign not provided 2023-05-01 criteria provided, single submitter clinical testing CHRNA2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000833792 SCV005222885 likely benign not provided criteria provided, single submitter not provided

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