ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001132286 SCV001291941 uncertain significance Deafness, autosomal dominant 4 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197065 SCV001367700 uncertain significance Peripheral neuropathy, myopathy, hoarseness, and hearing loss 2018-11-22 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.
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375401 SCV001571882 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
GeneDx RCV001559437 SCV001781661 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing

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