ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.178C>T (p.Gln60Ter)

dbSNP: rs1649088164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328615 SCV001519771 uncertain significance Dilated cardiomyopathy 1CC 2019-04-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001773660 SCV001991989 uncertain significance not provided 2019-04-10 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); Nonsense variant predicted to result in protein truncation and nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease

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