ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln)

gnomAD frequency: 0.00006  dbSNP: rs371988345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595997 SCV000703224 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000595997 SCV001785597 likely benign not provided 2019-06-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001854018 SCV002143170 benign CHARGE association 2023-03-04 criteria provided, single submitter clinical testing

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