ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.1176G>A (p.Pro392=)

gnomAD frequency: 0.00121  dbSNP: rs143316848
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Total submissions: 6
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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 RCV000220606 SCV000269283 benign not specified 2015-02-18 criteria provided, single submitter clinical testing p.Pro392Pro in exon 11 of MYH9: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.4% (39/10364) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs143316848).
PreventionGenetics, part of Exact Sciences RCV000220606 SCV000309019 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266385 SCV000438460 benign MYH9-related disorder 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000323893 SCV000438461 likely benign Autosomal dominant nonsyndromic hearing loss 17 2018-01-12 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 RCV001549617 SCV001769799 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing
Invitae RCV001549617 SCV003302764 benign not provided 2024-01-13 criteria provided, single submitter clinical testing

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