ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25329C>T (p.Ser8443=)

dbSNP: rs1270174085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002130595 SCV002446299 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-02-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426349 SCV004155257 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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