Submissions for variant NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)

gnomAD frequency: 0.00005  dbSNP: rs121909340

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000008964	SCV000456194	uncertain significance	Autosomal recessive nonsyndromic hearing loss 4	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Eurofins Ntd Llc (ga)	RCV000729912	SCV000857611	uncertain significance	not provided	2017-11-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490341	SCV002775288	uncertain significance	Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome	2022-04-04	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000729912	SCV004227157	uncertain significance	not provided	2022-01-19	criteria provided, single submitter	clinical testing	PM2_supporting
Breakthrough Genomics, Breakthrough Genomics	RCV000729912	SCV005188729	uncertain significance	not provided		criteria provided, single submitter	not provided
OMIM	RCV000008964	SCV000029176	pathogenic	Autosomal recessive nonsyndromic hearing loss 4	2007-06-01	no assertion criteria provided	literature only