ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23201_23212dup (p.Val7734_Lys7737dup)

dbSNP: rs1451740768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595307 SCV000702551 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000595307 SCV001991981 uncertain significance not provided 2019-01-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In-frame insertion of 4 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002483583 SCV002778501 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 2021-08-18 criteria provided, single submitter clinical testing

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