ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36254A>G (p.Gln12085Arg)

gnomAD frequency: 0.00005  dbSNP: rs183220684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172356 SCV000055020 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001080191 SCV000286603 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-15 criteria provided, single submitter clinical testing

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