ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly)

gnomAD frequency: 0.00680  dbSNP: rs34114147
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503037 SCV000594341 benign not specified 2019-05-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711423 SCV000841788 benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Invitae RCV000711423 SCV001020826 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711423 SCV004135024 benign not provided 2024-04-01 criteria provided, single submitter clinical testing DEAF1: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000711423 SCV001799822 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000503037 SCV001974127 benign not specified no assertion criteria provided clinical testing

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