Submissions for variant NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)

gnomAD frequency: 0.00001  dbSNP: rs397516293

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036077	SCV000059729	likely benign	not specified	2010-08-05	criteria provided, single submitter	clinical testing	Met708Val in exon 18 of MYO7A: This variant is not expected to have clinical sig nificance because this residue is not highly conserved across species. In additi on, computational analyses (PolyPhen, SIFT, AlignGVGD) do not suggest a high lik elihood of clinical significance.
Counsyl	RCV000665188	SCV000789262	uncertain significance	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2017-01-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001288311	SCV001475320	uncertain significance	not provided	2019-12-05	criteria provided, single submitter	clinical testing
Invitae	RCV001288311	SCV001650621	likely benign	not provided	2024-01-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001526753	SCV001737268	uncertain significance	Usher syndrome type 1	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578680	SCV001805951	likely benign	Autosomal dominant nonsyndromic hearing loss 11	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578681	SCV001805952	uncertain significance	Autosomal recessive nonsyndromic hearing loss 2	2021-07-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001288311	SCV003817859	uncertain significance	not provided	2019-02-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001288311	SCV004131116	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	MYO7A: BP4