ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9167G>A (p.Arg3056His)

gnomAD frequency: 0.00004  dbSNP: rs547301978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333489 SCV001526081 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2018-05-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002497308 SCV002785502 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-12-05 criteria provided, single submitter clinical testing

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