ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13839G>A (p.Val4613=)

gnomAD frequency: 0.00001  dbSNP: rs1307850717
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001466677 SCV001670684 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799088 SCV002042368 uncertain significance Cardiomyopathy 2019-09-05 criteria provided, single submitter clinical testing

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