ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)

gnomAD frequency: 0.00004  dbSNP: rs72648948
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518701 SCV000616011 likely benign not specified 2018-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000556938 SCV000642755 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726124 SCV000701237 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000726124 SCV001764322 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726124 SCV003818344 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing

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