Submissions for variant NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)

gnomAD frequency: 0.00141  dbSNP: rs111450526

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224145	SCV000280839	benign	not provided	2016-05-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224145	SCV000781000	uncertain significance	not provided	2017-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224145	SCV001014695	likely benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000224145	SCV001988853	benign	not provided	2021-07-14	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224145	SCV001797569	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224145	SCV001966686	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547567	SCV004743313	likely benign	BCAP31-related disorder	2020-07-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).