ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1406+8C>T (rs397516567)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036875 SCV000511969 benign not specified 2015-04-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000276441 SCV000355923 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312845 SCV000355924 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527868 SCV000636934 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-11-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036875 SCV000060530 likely benign not specified 2011-12-29 criteria provided, single submitter clinical testing 1406+8C>T in intron 12 of ACTN2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 140 6+8C>T in intron 12 of ACTN2 (allele frequency = n/a)

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