ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp)

gnomAD frequency: 0.00010  dbSNP: rs373623340
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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 RCV000254017 SCV000318711 uncertain significance Cardiovascular phenotype 2013-05-31 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000550971 SCV000643888 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-28 criteria provided, single submitter clinical testing

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