ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) (rs373223049)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217550 SCV000270988 likely benign not specified 2014-12-31 criteria provided, single submitter clinical testing p.Pro6087Pro in exon 73 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. It has been identified in 9/9802 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs373223049).
Invitae RCV001084934 SCV000555224 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727311 SCV000707465 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000217550 SCV001158460 likely benign not specified 2019-06-02 criteria provided, single submitter clinical testing

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