ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)

gnomAD frequency: 0.00008  dbSNP: rs370476812
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251620 SCV000315656 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000541867 SCV000642578 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000251620 SCV000725905 likely benign not specified 2017-12-13 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 RCV003137855 SCV003827370 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing

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