ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.805-12T>C

gnomAD frequency: 0.00002  dbSNP: rs375862613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155089 SCV000204773 likely benign not specified 2013-11-26 criteria provided, single submitter clinical testing 805-12T>C in Intron 10 of EYA4: This variant is not expected to have clinical si gnificance because it does not diverge from the splice site consensus sequence a nd computational tools do not predict an impact to splicing. It has been identi fied in 1/8598 European American chromosomes by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu; dbSNP rs375862613).
Labcorp Genetics (formerly Invitae), Labcorp RCV002514981 SCV003295478 likely benign Dilated cardiomyopathy 1J 2022-10-13 criteria provided, single submitter clinical testing

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