Submissions for variant NM_175875.5(SIX5):c.1963C>T (p.Leu655=)

gnomAD frequency: 0.00312  dbSNP: rs151072042

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000879934	SCV001022990	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000879934	SCV001908888	benign	not provided	2019-08-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002507552	SCV002805879	likely benign	Branchiootorenal syndrome 2	2021-08-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000879934	SCV004139789	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SIX5: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000879934	SCV005310491	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702741	SCV001928609	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702741	SCV001964772	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940393	SCV004754573	benign	SIX5-related disorder	2019-08-07	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).