ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala)

gnomAD frequency: 0.00284  dbSNP: rs2099130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082353 SCV000261735 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518392 SCV000616068 benign not provided 2018-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000518392 SCV001152939 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TTN: BS2

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