Submissions for variant NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)

gnomAD frequency: 0.00280  dbSNP: rs186745328

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080349	SCV000290226	benign	Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12	2024-02-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443525	SCV000511602	uncertain significance	not provided	2016-11-07	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000443525	SCV000519779	likely benign	not provided	2021-03-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27527004, 11572989)
Athena Diagnostics	RCV000443525	SCV000844906	likely benign	not provided	2018-05-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000443525	SCV001151020	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	WWOX: BP4, BS2
Genetic Services Laboratory, University of Chicago	RCV001820753	SCV002066723	benign	not specified	2021-03-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000443525	SCV004562871	likely benign	not provided	2023-09-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000443525	SCV001926300	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000443525	SCV001969392	likely benign	not provided		no assertion criteria provided	clinical testing