ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22972A>G (p.Ser7658Gly)

dbSNP: rs1438394866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993160 SCV001145935 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000993160 SCV001992943 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Revvity Omics, Revvity RCV000993160 SCV003826988 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing

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