ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40931T>C (p.Val13644Ala)

gnomAD frequency: 0.00001  dbSNP: rs770248490
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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 RCV001799191 SCV002042465 uncertain significance Cardiomyopathy 2020-04-14 criteria provided, single submitter clinical testing
GeneDx RCV005369956 SCV005921613 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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