Submissions for variant NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile)

gnomAD frequency: 0.00328  dbSNP: rs73000144

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000385077	SCV000337453	likely benign	not specified	2015-11-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872042	SCV001013792	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000872042	SCV001773519	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25335771)
CeGaT Center for Human Genetics Tuebingen	RCV000872042	SCV004149614	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	HDAC4: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000872042	SCV005261888	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000872042	SCV001740542	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000872042	SCV001800136	likely benign	not provided		no assertion criteria provided	clinical testing