ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)

gnomAD frequency: 0.00002  dbSNP: rs761223583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725369 SCV000336409 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
Invitae RCV000469081 SCV000542733 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000290753 SCV000728012 likely benign not specified 2018-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Revvity Omics, Revvity RCV000725369 SCV004237106 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing

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