ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs)

dbSNP: rs1064793435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481693 SCV000566109 likely pathogenic not provided 2019-12-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256839 SCV001433324 pathogenic Conduction disorder of the heart 2020-03-01 criteria provided, single submitter clinical testing

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