Submissions for variant NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)

gnomAD frequency: 0.00337  dbSNP: rs139600783

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179966	SCV000232292	benign	not specified	2014-12-15	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000428753	SCV000511701	likely benign	not provided	2016-07-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000428753	SCV001119000	benign	not provided	2023-12-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000987305	SCV001136568	likely benign	Adams-Oliver syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000987305	SCV002539424	benign	Adams-Oliver syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000987305	SCV002809425	likely benign	Adams-Oliver syndrome 1	2021-10-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000428753	SCV004155370	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ARHGAP31: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003927692	SCV004739146	benign	ARHGAP31-related condition	2019-05-20	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000179966	SCV001743564	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000428753	SCV001799978	likely benign	not provided		no assertion criteria provided	clinical testing