ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18810G>A (p.Gln6270=)

dbSNP: rs727505012
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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 RCV000156435 SCV000206153 likely benign not specified 2014-03-13 criteria provided, single submitter clinical testing Gln5026Gln in exon 61 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.
Invitae RCV002515020 SCV003504507 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-14 criteria provided, single submitter clinical testing

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