ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18426C>T (p.Asp6142=)

gnomAD frequency: 0.00001  dbSNP: rs1435792777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595306 SCV000707068 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396182 SCV001597907 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-03-24 criteria provided, single submitter clinical testing

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