ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Miami Human Genetics, University Of Miami Miller School Of Medicine RCV003233343 SCV003928164 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2023-06-02 criteria provided, single submitter research
GeneDx RCV003443189 SCV004169108 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing Reported in one patient with mitochondrial abnormality in published literature (PMID: 26633542); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26633542)

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