ClinVar Miner

Submissions for variant NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) (rs148304857)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000193476 SCV000529537 likely benign not specified 2016-07-15 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.
Genetic Services Laboratory, University of Chicago RCV000193476 SCV000247035 likely benign not specified 2015-04-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364273 SCV000419481 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269762 SCV000419482 uncertain significance Multiple pterygium syndrome Escobar type 2016-06-14 criteria provided, single submitter clinical testing

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