ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=)

gnomAD frequency: 0.00231  dbSNP: rs148813865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000359567 SCV000332174 benign not specified 2015-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870796 SCV001012339 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000870796 SCV004149605 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing HDAC4: BP4, BP7, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609703 SCV000734180 likely benign Chromosome 2q37 deletion syndrome no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000870796 SCV001969380 likely benign not provided no assertion criteria provided clinical testing

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