ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55788G>A (p.Val18596=)

dbSNP: rs769822399
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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) RCV000596114 SCV000701806 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491402 SCV001695995 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-21 criteria provided, single submitter clinical testing

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