ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)

gnomAD frequency: 0.00006  dbSNP: rs200724395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551164 SCV000643805 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997371 SCV001152699 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330315 SCV001521960 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2019-12-03 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 RCV002491050 SCV002794469 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 2021-09-17 criteria provided, single submitter clinical testing

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