ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) (rs201735487)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152474 SCV000201593 benign not specified 2014-03-12 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because the variant a minoacid is present in 13 other mammals and the variant has been identified in 0 .2% (8/3704) of African American chromosomes by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu/EVS/; dbSNP rs201735487).
Invitae RCV000468123 SCV000555181 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152474 SCV000615968 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing

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