ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32482C>T (p.Pro10828Ser)

gnomAD frequency: 0.00004  dbSNP: rs746685110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563203 SCV001786103 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30847666)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001563203 SCV001799376 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001563203 SCV001919247 uncertain significance not provided no assertion criteria provided clinical testing

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