ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105339A>G (p.Ser35113=)

gnomAD frequency: 0.00001  dbSNP: rs886038721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252242 SCV000315650 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001471547 SCV001675655 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-06 criteria provided, single submitter clinical testing

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