Submissions for variant NM_000260.4(MYO7A):c.4441+7C>T (rs372493678)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000151510	SCV000199600	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	4441+7C>T in Intron 33 of MYO7A: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.2% (7/3132) of African American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000724056	SCV000229592	uncertain significance	not provided	2014-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000151510	SCV000725086	likely benign	not specified	2017-11-22	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	RCV000724056	SCV001040220	benign	not provided	2020-11-19	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001073918	SCV001239483	uncertain significance	Retinal dystrophy	2018-06-19	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271762	SCV001453188	uncertain significance	Usher syndrome, type 1B	2020-04-16	no assertion criteria provided	clinical testing