Submissions for variant NM_000260.4(MYO7A):c.5559C>T (p.His1853=)

gnomAD frequency: 0.00049  dbSNP: rs373612656

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036191	SCV000059843	likely benign	not specified	2017-05-31	criteria provided, single submitter	clinical testing	p.His1853His in exon 40 of MYO7A: This variant t is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.2% (54/25070 ) of Finish chromosomes and 61/123476 European chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs373612656).
Counsyl	RCV000664543	SCV000788523	likely benign	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2017-01-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000906706	SCV001051364	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000906706	SCV001144669	likely benign	not provided	2018-10-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000906706	SCV001767033	likely benign	not provided	2020-09-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000906706	SCV004131133	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	MYO7A: BP4, BP7