ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile)

gnomAD frequency: 0.00001  dbSNP: rs370939248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335358 SCV001528490 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2018-11-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV003135995 SCV003825602 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003135995 SCV005413131 uncertain significance not provided 2024-08-15 criteria provided, single submitter clinical testing PM2
CeGaT Center for Human Genetics Tuebingen RCV003135995 SCV005436265 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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