ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.222G>A (p.Glu74=)

gnomAD frequency: 0.00180  dbSNP: rs145137674
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000363463 SCV000341935 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871121 SCV001012726 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871121 SCV004149624 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing HDAC4: BP4, BP7

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