ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.934G>A (p.Ala312Thr)

gnomAD frequency: 0.00002  dbSNP: rs199946856
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119939 SCV002402007 benign not provided 2024-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002119939 SCV005074589 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing HDAC4: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003951089 SCV004766475 benign HDAC4-related disorder 2020-03-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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