ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) (rs140025425)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194864 SCV000249288 likely benign not specified 2015-03-09 criteria provided, single submitter clinical testing
Invitae RCV000643786 SCV000765473 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727832 SCV000855262 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000727832 SCV001423359 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07-22-2019 by Lab or GTR ID Credit Valley Hospital Department of Laboratory Medicine. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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