ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val)

dbSNP: rs886038866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252902 SCV000318722 uncertain significance Cardiovascular phenotype 2013-05-27 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Fulgent Genetics, Fulgent Genetics RCV002479977 SCV002785916 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 2021-10-11 criteria provided, single submitter clinical testing

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