ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34778C>T (p.Pro11593Leu)

gnomAD frequency: 0.00009  dbSNP: rs199975096
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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) RCV000728014 SCV000855532 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000728014 SCV002571401 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 RCV002477680 SCV002781146 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 2021-07-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728014 SCV003821767 uncertain significance not provided 2021-11-24 criteria provided, single submitter clinical testing

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