Submissions for variant NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)

gnomAD frequency: 0.22461  dbSNP: rs3747113

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001696033	SCV001913610	benign	not provided	2020-06-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001810261	SCV002057569	benign	Oculomaxillofacial dysostosis	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001810262	SCV002057570	benign	Autosomal dominant Opitz G/BBB syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001810263	SCV002057571	benign	Teebi hypertelorism syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001696033	SCV002474503	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001696033	SCV005278456	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726613	SCV001965274	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726613	SCV001978632	benign	not specified		no assertion criteria provided	clinical testing