ClinVar Miner

Submissions for variant NM_001378414.1(HDAC4):c.684G>A (p.Pro228=)

gnomAD frequency: 0.00183  dbSNP: rs144387989
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000343854 SCV000336745 benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865337 SCV001006287 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000865337 SCV001816366 likely benign not provided 2021-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000865337 SCV005093441 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing HDAC4: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000865337 SCV005261889 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614566 SCV000734181 likely benign Chromosome 2q37 deletion syndrome no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000865337 SCV001965302 likely benign not provided no assertion criteria provided clinical testing

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