ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu)

gnomAD frequency: 0.00001  dbSNP: rs753725329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713982 SCV000844637 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764348 SCV000895367 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 2018-10-31 criteria provided, single submitter clinical testing

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