ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.717G>A (p.Arg239=) (rs57946868)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000146001 SCV000168684 benign not specified 2014-05-11 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 RCV000146001 SCV000193151 likely benign not specified 2014-05-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402105 SCV000459825 benign Hypoplastic left heart syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314566 SCV000459826 benign Syndactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350764 SCV000459827 benign Oculodentodigital dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465870 SCV000557983 benign Oculodentodigital dysplasia, autosomal recessive 2017-07-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000146001 SCV000302782 benign not specified criteria provided, single submitter clinical testing

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