ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.296G>A (p.Arg99His) (rs143103435)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186965 SCV000240536 likely benign not specified 2017-10-10 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.
GenomeConnect, ClinGen RCV000844908 SCV000986714 not provided Epilepsy, nocturnal frontal lobe, type 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 06/02/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000460546 SCV000553228 benign Autosomal dominant nocturnal frontal lobe epilepsy 2017-12-18 criteria provided, single submitter clinical testing

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