ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63417G>A (p.Gln21139=)

gnomAD frequency: 0.00001  dbSNP: rs1167463666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797945 SCV002041803 likely benign not specified 2021-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772195 SCV004572461 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-23 criteria provided, single submitter clinical testing

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