ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68379T>C (p.Ala22793=)

dbSNP: rs727503574
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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 RCV000152240 SCV000201041 likely benign not specified 2013-09-24 criteria provided, single submitter clinical testing Ala20225Ala in exon 271 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Ala20225Ala in exon 271 of TTN (allele fre quency = n/a)
Invitae RCV000643438 SCV000765125 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-08-05 criteria provided, single submitter clinical testing

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