ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75519T>C (p.Asp25173=)

gnomAD frequency: 0.00001  dbSNP: rs1707836839
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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 RCV002168758 SCV002428132 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809777 SCV005434006 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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