ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52531G>C (p.Val17511Leu)

gnomAD frequency: 0.00001  dbSNP: rs1446269783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799207 SCV002042532 uncertain significance Cardiomyopathy 2021-04-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998959 SCV005621950 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is not damaging.

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