ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met)

gnomAD frequency: 0.00010  dbSNP: rs200359082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000288186 SCV000334289 uncertain significance not provided 2015-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000288186 SCV000984581 likely benign not provided 2019-05-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000288186 SCV003819045 uncertain significance not provided 2023-10-19 criteria provided, single submitter clinical testing

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