ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77064G>T (p.Gln25688His)

dbSNP: rs2154167487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752288 SCV001988327 uncertain significance not provided 2019-01-31 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; McVean et al., 2012; Exome Variant Server); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function

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