ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)

gnomAD frequency: 0.00002  dbSNP: rs72648995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000386127 SCV000342966 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000533698 SCV000642905 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000386127 SCV001815136 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000386127 SCV004237364 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing

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