ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90434T>C (p.Ile30145Thr)

gnomAD frequency: 0.00001  dbSNP: rs751359750
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262489 SCV000343356 uncertain significance not provided 2016-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000262489 SCV001991079 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000262489 SCV003821020 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing

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