ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)

dbSNP: rs116035034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196065 SCV001366494 uncertain significance Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2019-06-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Mayo Clinic Laboratories, Mayo Clinic RCV002261299 SCV002541662 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing
GeneDx RCV002261299 SCV002600996 uncertain significance not provided 2022-05-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV002261299 SCV003918164 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing

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