Submissions for variant NM_000441.2(SLC26A4):c.416-13T>C

gnomAD frequency: 0.00455  dbSNP: rs77553387

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036494	SCV000060149	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	416-13T>C in Intron 04 of SLC26A4: This variant is not expected to have clinical significance because it has been identified in 1.1% (40/3738) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs77553387).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000036494	SCV001160261	benign	not specified	2019-02-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001161065	SCV001322908	likely benign	Pendred syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001161066	SCV001322909	uncertain significance	Autosomal recessive nonsyndromic hearing loss 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001618226	SCV001845099	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23280318)
Invitae	RCV001618226	SCV002408309	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036494	SCV001917594	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000036494	SCV001974083	benign	not specified		no assertion criteria provided	clinical testing