Submissions for variant NM_001374353.1(GLI2):c.643+16C>G

dbSNP: rs6718382

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251205	SCV000310988	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001636788	SCV001852490	benign	not provided	2019-04-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701820	SCV001933812	benign	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701899	SCV001933813	benign	Holoprosencephaly 9	2021-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058187	SCV002327734	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001636788	SCV005242672	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000251205	SCV001919467	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000251205	SCV001963061	benign	not specified		no assertion criteria provided	clinical testing