Submissions for variant NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)

gnomAD frequency: 0.00589  dbSNP: rs45479896

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000339958	SCV000464338	uncertain significance	Carpenter syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000424519	SCV000511506	likely benign	not provided	2017-01-27	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000339958	SCV000637230	benign	Carpenter syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001449940	SCV001653397	likely benign	RAB23-related Carpenter syndrome	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000424519	SCV001783333	likely benign	not provided	2024-07-23	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000424519	SCV004810885	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	RAB23: BP4, BS2
Natera, Inc.	RCV001449940	SCV002083438	benign	RAB23-related Carpenter syndrome	2019-10-28	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972506	SCV004793457	benign	RAB23-related disorder	2019-09-05	no assertion criteria provided	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).