Submissions for variant NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)

gnomAD frequency: 0.04735  dbSNP: rs146811565

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174549	SCV000225867	benign	not specified	2015-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174549	SCV000310974	benign	not specified	2016-03-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302004	SCV000416208	likely benign	Holoprosencephaly 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555688	SCV000655227	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001539729	SCV001757533	benign	not provided	2018-10-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001539729	SCV005262749	likely benign	not provided		criteria provided, single submitter	not provided