Submissions for variant NM_000260.4(MYO7A):c.4153-7C>A

dbSNP: rs369489756

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156864	SCV000206585	uncertain significance	not specified	2014-11-18	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The c.4153-7C>A var iant in MYO7A has not been previously reported in individuals with hearing loss or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this informati on is not predictive enough to rule out pathogenicity. In summary, while the cl inical significance of the c.4153-7C>A variant is uncertain, the splicing data s uggest that it is more likely to be benign.
Counsyl	RCV000666882	SCV000791250	uncertain significance	Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2017-05-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000841788	SCV000983772	likely benign	not provided	2020-08-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21602428)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000841788	SCV001535646	likely benign	not provided	2024-01-02	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271758	SCV001453184	uncertain significance	Usher syndrome type 1B	2020-04-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734746	SCV005351673	likely benign	MYO7A-related disorder	2024-09-25	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).