ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34820T>C (p.Val11607Ala)

gnomAD frequency: 0.00001  dbSNP: rs371203499
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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) RCV000731373 SCV000859183 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485895 SCV002776100 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 2021-12-08 criteria provided, single submitter clinical testing

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