ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14062G>A (p.Val4688Met)

gnomAD frequency: 0.00002  dbSNP: rs1476964512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727846 SCV000855295 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477679 SCV002783261 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 2021-09-09 criteria provided, single submitter clinical testing

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