ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50867C>A (p.Thr16956Lys)

gnomAD frequency: 0.00001  dbSNP: rs1040561744
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773021 SCV002003725 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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

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