ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6490G>A (p.Ala2164Thr)

gnomAD frequency: 0.00003  dbSNP: rs56285559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000864818 SCV000731026 likely benign not provided 2019-11-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27066551)
Invitae RCV001495656 SCV001700339 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-10-12 criteria provided, single submitter clinical testing

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