ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9656C>A (p.Thr3219Asn)

gnomAD frequency: 0.00002  dbSNP: rs1385851793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734968 SCV000863153 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000734968 SCV001773914 uncertain significance not provided 2020-06-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477732 SCV002786883 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 2021-07-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000734968 SCV003825559 uncertain significance not provided 2022-04-02 criteria provided, single submitter clinical testing

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