ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu)

gnomAD frequency: 0.01201  dbSNP: rs4759043
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Total submissions: 5
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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 RCV000038470 SCV000062148 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro426Leu in Exon 15 of MYO1A: This variant is not expected to have clinical sig nificance because it has been identified in 15.0% (15/100) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs4 759043).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811273 SCV000604415 benign not provided 2023-11-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000038470 SCV000707735 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000038470 SCV000730556 benign not specified 2017-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV001811273 SCV005215467 likely benign not provided criteria provided, single submitter not provided

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