Submissions for variant NM_000260.4(MYO7A):c.1343+8G>T

dbSNP: rs2276278

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000601954	SCV000731355	likely benign	not specified	2016-12-08	criteria provided, single submitter	clinical testing	c.1343+8G>T in intron 12 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 6/66590 European chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2276278).
Illumina Laboratory Services, Illumina	RCV001113754	SCV001271547	uncertain significance	Usher syndrome type 1	2017-11-28	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	RCV001113755	SCV001271548	uncertain significance	Autosomal dominant nonsyndromic hearing loss 11	2017-11-28	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	RCV001113756	SCV001271549	uncertain significance	Autosomal recessive nonsyndromic hearing loss 2	2017-11-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001467210	SCV001671231	likely benign	not provided	2025-01-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001467210	SCV004010101	uncertain significance	not provided	2023-05-01	criteria provided, single submitter	clinical testing	MYO7A: PM2, BP4
PreventionGenetics, part of Exact Sciences	RCV004533259	SCV004746425	likely benign	MYO7A-related disorder	2019-05-08	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).