ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2083G>T (p.Val695Phe)

dbSNP: rs747479318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643639 SCV000765326 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003140013 SCV003819142 uncertain significance not provided 2019-04-23 criteria provided, single submitter clinical testing

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