Submissions for variant NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) (rs111033504)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000036192	SCV000059844	benign	not specified	2012-03-20	criteria provided, single submitter	clinical testing	Leu1866Leu in exon 40 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 2.3% (82/3500) of Afric an American chromosomes in a broad population by the NHLBI Exome sequencing proj ect (http://evs.gs.washington.edu/EVS/; dbSNP rs111033504) and is reported as be nign in one publication (Jaijo 2009).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000036192	SCV000860739	likely benign	not specified	2018-04-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000828195	SCV000969878	likely benign	not provided	2018-04-06	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.
Invitae	RCV000828195	SCV001118391	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000828195	SCV001148378	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001109355	SCV001266682	likely benign	Deafness, autosomal recessive 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV001114998	SCV001272930	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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV001114999	SCV001272931	benign	Deafness, autosomal dominant 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.