Submissions for variant NM_000260.4(MYO7A):c.93C>T (p.Cys31=)

dbSNP: rs35689081

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036252	SCV000059904	benign	not specified	2009-12-09	criteria provided, single submitter	clinical testing	Cys31Cys in Exon 3 of MYO7A: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located near a s plice site, and has been identified in 5.5% (234/4260) of African American chrom osomes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs35689081).
PreventionGenetics, part of Exact Sciences	RCV000036252	SCV000303315	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357024	SCV000374156	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000273950	SCV000374157	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000331379	SCV000374158	likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000036252	SCV000730250	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000960115	SCV001107063	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000036252	SCV001476556	benign	not specified	2019-09-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000960115	SCV005217831	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001275884	SCV001461534	benign	Usher syndrome type 1B	2020-09-16	no assertion criteria provided	clinical testing