Submissions for variant NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)

gnomAD frequency: 0.00003  dbSNP: rs376743356

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151511	SCV000199603	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Thr1496Thr in Exon 34 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/6862 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
GeneDx	RCV001770114	SCV001992055	uncertain significance	not provided	2019-04-15	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001770114	SCV002149028	likely benign	not provided	2025-01-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005003495	SCV005629463	uncertain significance	Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2024-06-16	criteria provided, single submitter	clinical testing