ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser)

gnomAD frequency: 0.00001  dbSNP: rs879180534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560804 SCV000643279 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993446 SCV001146418 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000993446 SCV003821150 uncertain significance not provided 2019-03-06 criteria provided, single submitter clinical testing

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