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

Total submissions: 5

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	2019-03-04	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