Submissions for variant NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile)

gnomAD frequency: 0.00780  dbSNP: rs34151474

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039040	SCV000062718	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Thr1417Ile in Exon 30 of MYO3A: This variant is not expected to have clinical si gnificance because it has been identified in 1.5% (105/7018) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs34151474).
GeneDx	RCV000971915	SCV000717934	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000971915	SCV001119593	benign	not provided	2025-01-11	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000971915	SCV001144637	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104383	SCV001261242	uncertain significance	Autosomal recessive nonsyndromic hearing loss 30	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000971915	SCV004126559	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	MYO3A: BP4, BS1, BS2