Submissions for variant NM_005413.4(SIX3):c.576C>T (p.Arg192=)

gnomAD frequency: 0.02708  dbSNP: rs182881

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245285	SCV000311041	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000055687	SCV000638458	benign	Holoprosencephaly 2	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713305	SCV000843895	benign	not provided	2017-10-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000713305	SCV001157134	benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000713305	SCV001894661	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32022405)
Fulgent Genetics, Fulgent Genetics	RCV002490634	SCV002794618	benign	Holoprosencephaly 2; Schizencephaly	2021-10-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713305	SCV003916095	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SIX3: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000713305	SCV005240686	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000055687	SCV000086602	non-pathogenic	Holoprosencephaly 2	2013-08-29	no assertion criteria provided	curation	Converted during submission to Benign.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000245285	SCV002037427	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000245285	SCV002038438	benign	not specified		no assertion criteria provided	clinical testing