ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25145G>A (p.Arg8382His)

gnomAD frequency: 0.00009  dbSNP: rs199598066
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000728837 SCV000238359 likely benign not provided 2021-09-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728837 SCV000856454 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728837 SCV003824102 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998392 SCV005622297 likely benign not specified 2023-11-09 criteria provided, single submitter clinical testing

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