ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97282G>A (p.Gly32428Ser)

gnomAD frequency: 0.00004  dbSNP: rs757420687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003325798 SCV004031742 uncertain significance not provided 2023-08-30 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; This variant is associated with the following publications: (PMID: 31983221)

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