ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22432A>G (p.Ile7478Val)

gnomAD frequency: 0.00002  dbSNP: rs1191020503
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Total submissions: 3
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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 RCV005407720 SCV006073185 uncertain significance not specified 2025-04-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139784 SCV003825498 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545376 SCV000642817 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-15 criteria provided, single submitter clinical testing

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