ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84497C>T (p.Ala28166Val)

gnomAD frequency: 0.00001  dbSNP: rs1553564661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642882 SCV000764569 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139976 SCV003824952 uncertain significance not provided 2020-03-05 criteria provided, single submitter clinical testing

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