Submissions for variant NM_015404.4(WHRN):c.1627-5T>A

gnomAD frequency: 0.00184  dbSNP: rs187221008

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150390	SCV000197551	benign	not specified	2013-12-26	criteria provided, single submitter	clinical testing	1627-5T>A in Intron 7 of DFNB31: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (26/8600) of European America ns by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbS NP rs187221008), and computational tools do not suggest an impact to splicing.
Eurofins Ntd Llc (ga)	RCV000723851	SCV000202615	uncertain significance	not provided	2017-04-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000723851	SCV001117389	benign	not provided	2025-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001167987	SCV001330540	uncertain significance	Autosomal recessive nonsyndromic hearing loss 31	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.
Illumina Laboratory Services, Illumina	RCV001167988	SCV001330541	uncertain significance	Usher syndrome type 2D	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.
CeGaT Center for Human Genetics Tuebingen	RCV000723851	SCV001334765	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	WHRN: BP4, BS2
GeneDx	RCV000723851	SCV001787635	likely benign	not provided	2020-07-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27208204, 23591405)
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	RCV000225418	SCV000282658	uncertain significance	Retinal dystrophy		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004757965	SCV005345593	likely benign	WHRN-related disorder	2024-03-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).