ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8292G>A (p.Leu2764=) (rs727503687)

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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 RCV000152490 SCV000201633 likely benign not specified 2013-09-06 criteria provided, single submitter clinical testing Leu2764Leu in exon 35 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. Leu2764Leu in exon 35 of TTN (allele frequenc y = n/a)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997590 SCV001153167 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV001400384 SCV001602188 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-01-15 criteria provided, single submitter clinical testing

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