Submissions for variant NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)

gnomAD frequency: 0.00386  dbSNP: rs142293185

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036210	SCV000059862	benign	not specified	2012-05-15	criteria provided, single submitter	clinical testing	Val1956Ile in Exon 43 of MYO7A: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (21/6834) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs142293185) and has been reported as benign (Street 2004, Le Quesne Stabej 2011).
Eurofins Ntd Llc (ga)	RCV000036210	SCV000230609	benign	not specified	2014-11-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000312785	SCV000374487	benign	Autosomal dominant nonsyndromic hearing loss 11	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000369786	SCV000374488	uncertain significance	Autosomal recessive nonsyndromic hearing loss 2	2018-01-12	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.
Illumina Laboratory Services, Illumina	RCV000277461	SCV000374489	uncertain significance	Usher syndrome type 1	2018-01-12	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	RCV000963284	SCV000714345	likely benign	not provided	2021-04-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25558175, 23804846, 15121790)
Counsyl	RCV000669735	SCV000794514	likely benign	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2017-10-03	criteria provided, single submitter	clinical testing
Invitae	RCV000963284	SCV001110433	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000963284	SCV001148379	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYO7A: BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000963284	SCV001798337	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036210	SCV001923963	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036210	SCV001952993	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000963284	SCV001975662	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831642	SCV002088525	benign	Usher syndrome type 1B	2019-11-01	no assertion criteria provided	clinical testing