ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31927+2T>C

dbSNP: rs2154278303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774551 SCV002002009 uncertain significance not provided 2020-01-23 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); Canonical splice site variant with an unclear effect on protein function; Located in the I-band region; does not affect one of the constitutively expressed exons throughout the TTN gene which have been associated with DCM (Deo, 2016; Schafer et al., 2017)

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