ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20367G>A (p.Pro6789=)

dbSNP: rs368422028
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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 RCV000152401 SCV000201408 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro5545Pro in Exon 67 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/6664 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS;).
Invitae RCV000864527 SCV001005337 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-06 criteria provided, single submitter clinical testing

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