Submissions for variant NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)

gnomAD frequency: 0.47208  dbSNP: rs1052030

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036163	SCV000059815	benign	not specified	2006-10-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000036163	SCV000228833	benign	not specified	2014-09-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000036163	SCV000303300	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000353260	SCV000374153	benign	Autosomal recessive nonsyndromic hearing loss 2	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000261128	SCV000374154	benign	Autosomal dominant nonsyndromic hearing loss 11	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000677332	SCV000374155	benign	Usher syndrome type 1	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
SIB Swiss Institute of Bioinformatics	RCV000677332	SCV000803582	benign	Usher syndrome type 1	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone, for Usher syndrome 1B, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000132571	SCV001158875	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000132571	SCV001719660	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000261128	SCV001749270	benign	Autosomal dominant nonsyndromic hearing loss 11	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000353260	SCV001749271	benign	Autosomal recessive nonsyndromic hearing loss 2	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000677332	SCV001749272	benign	Usher syndrome type 1	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000132571	SCV001940616	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000132571	SCV005235667	benign	not provided		criteria provided, single submitter	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132571	SCV000172513	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
Natera, Inc.	RCV001275883	SCV001461532	benign	Usher syndrome type 1B	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000036163	SCV001741866	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036163	SCV001952458	benign	not specified		no assertion criteria provided	clinical testing