ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4935del (p.Lys1645fs)

dbSNP: rs2141895144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547822 SCV001767616 pathogenic not provided 2020-06-12 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 184 amino acids are lost and replaced with 168 incorrect amino acids; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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