ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2751G>A (p.Thr917=) (rs369429961)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724555 SCV000225042 uncertain significance not provided 2015-02-14 criteria provided, single submitter clinical testing
GeneDx RCV000724555 SCV000590348 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing The c.2751G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 18/20490 (0.088%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). An in-silico splice prediction model predicts that c.2751G>A may result in loss of the natural acceptor site of intron 9, and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV001088935 SCV000755760 likely benign CHARGE association 2020-09-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288916 SCV001476342 benign not specified 2019-12-03 criteria provided, single submitter clinical testing

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