ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104985A>G (p.Gly34995=)

dbSNP: rs397517793
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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 RCV000040949 SCV000064640 likely benign not specified 2012-05-10 criteria provided, single submitter clinical testing Gly32427Gly in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. Gly32427Gly in exon 307 of TTN (allele f requency = n/a)
Invitae RCV002054799 SCV002470875 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-09-03 criteria provided, single submitter clinical testing

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