ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19158A>G (p.Gln6386=)

gnomAD frequency: 0.00002  dbSNP: rs727504206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154090 SCV000203738 uncertain significance not provided 2014-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764945 SCV004591948 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-22 criteria provided, single submitter clinical testing

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