ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24546T>A (p.Val8182=)

gnomAD frequency: 0.00001  dbSNP: rs397517508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040005 SCV000063696 likely benign not specified 2012-04-19 criteria provided, single submitter clinical testing Val6938Val in exon 82 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Val6938Val in exon 82 of TTN (allele frequen cy = n/a)
Invitae RCV000463444 SCV000542337 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-29 criteria provided, single submitter clinical testing

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