Submissions for variant NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)

gnomAD frequency: 0.00032  dbSNP: rs377388669

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155237	SCV000204923	likely benign	not specified	2016-08-04	criteria provided, single submitter	clinical testing	p.Pro1751Pro in Exon 38 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/7182 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs377388669).
GeneDx	RCV000155237	SCV000726553	likely benign	not specified	2018-01-18	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.
Eurofins Ntd Llc (ga)	RCV000733418	SCV000861486	uncertain significance	not provided	2018-06-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000733418	SCV001111405	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000733418	SCV004131132	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	MYO7A: BP4, BP7
Natera, Inc.	RCV001273509	SCV001456620	likely benign	Usher syndrome type 1B	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000155237	SCV001918378	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000733418	SCV001974943	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544433	SCV004777998	likely benign	MYO7A-related disorder	2019-08-20	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).