ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7161del (p.Lys2388fs)

gnomAD frequency: 0.00001  dbSNP: rs1220584620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550887 SCV001771286 likely pathogenic not provided 2019-10-10 criteria provided, single submitter clinical testing 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; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001550887 SCV002018908 pathogenic not provided 2020-04-04 criteria provided, single submitter clinical testing

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