ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.3589G>A (p.Glu1197Lys)

gnomAD frequency: 0.00414  dbSNP: rs75801377
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151466 SCV000199507 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu1197Lys in Exon 30 of MYO3A: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (41/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs75801377).
Invitae RCV000883744 SCV001027073 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107046 SCV001264175 likely benign 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000883744 SCV001935928 benign not provided 2020-09-15 criteria provided, single submitter clinical testing

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