ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35577A>G (p.Glu11859=)

gnomAD frequency: 0.00002  dbSNP: rs757426241
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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 RCV001480172 SCV001684487 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-06-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264348 SCV002544167 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TTN: BP4

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