ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)

gnomAD frequency: 0.00026  dbSNP: rs370498307
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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 RCV000232960 SCV000286583 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-02-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000299121 SCV000335279 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000299121 SCV001790680 likely benign not provided 2018-11-13 criteria provided, single submitter clinical testing

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