Submissions for variant NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr)

gnomAD frequency: 0.00417  dbSNP: rs117802609

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118926	SCV000153596	likely benign	not specified	2015-04-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118926	SCV000344135	likely benign	not specified	2016-07-22	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000423823	SCV000511832	likely benign	not provided	2016-10-10	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000423823	SCV001025879	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000423823	SCV001849983	benign	not provided	2020-04-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243778	SCV002514200	benign	Microcephalic primordial dwarfism due to ZNF335 deficiency	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000423823	SCV002563684	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	ZNF335: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000423823	SCV005208792	likely benign	not provided		criteria provided, single submitter	not provided