ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27246T>C (p.Asp9082=)

gnomAD frequency: 0.00003  dbSNP: rs183503760
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704319 SCV000527946 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Invitae RCV000863115 SCV001003717 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-03-27 criteria provided, single submitter clinical testing

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