ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)

gnomAD frequency: 0.00053  dbSNP: rs142279745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176674 SCV000228365 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000176674 SCV001019074 likely benign not provided 2024-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000176674 SCV004147380 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing HDAC4: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003907588 SCV004721020 likely benign HDAC4-related disorder 2019-07-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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