ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5447G>A (p.Arg1816His)

gnomAD frequency: 0.00009  dbSNP: rs201923258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287000 SCV000414453 likely benign Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001582972 SCV001812093 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28861346, 28191911)
Labcorp Genetics (formerly Invitae), Labcorp RCV001582972 SCV002329800 benign not provided 2022-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957695 SCV004773676 likely benign MYH14-related disorder 2020-04-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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