ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) (rs397517492)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039932 SCV000063623 likely benign not specified 2012-02-21 criteria provided, single submitter clinical testing Lys5362Lys in exon 65 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Lys5362Lys in exon 65 of TTN (allele frequenc y = n/a)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039932 SCV000342988 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV000458095 SCV000555360 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039932 SCV000616014 benign not specified 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311556 SCV001501770 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing

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