ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)

dbSNP: rs1804098493
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214202 SCV001385874 likely pathogenic CHARGE association 2019-05-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed to be de novo in an individual affected with clinical features of CHD7-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.3094_3114del, results in the deletion of 7 amino acid(s) of the CHD7 protein (p.Glu1032_Trp1038del), but otherwise preserves the integrity of the reading frame.

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