ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1446C>A (p.Ala482=)

dbSNP: rs183258737
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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) RCV000733825 SCV000861925 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768236 SCV004568413 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-06-20 criteria provided, single submitter clinical testing

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