ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.2162G>T (p.Arg721Leu)

dbSNP: rs546431200
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000735246 SCV000863455 uncertain significance Dilated cardiomyopathy 1AA 2018-09-04 criteria provided, single submitter clinical testing

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