Submissions for variant NM_003737.4(DCHS1):c.2996G>A (p.Arg999Gln)

gnomAD frequency: 0.00281  dbSNP: rs111781030

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958385	SCV001105222	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000958385	SCV001793712	likely benign	not provided	2021-01-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000958385	SCV004135909	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	DCHS1: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV000958385	SCV005221268	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000958385	SCV001798556	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000958385	SCV001965196	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985469	SCV004756606	likely benign	DCHS1-related disorder	2022-10-10	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).