ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.2448C>T (p.Cys816=)

gnomAD frequency: 0.00112  dbSNP: rs113285582
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Total submissions: 9
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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 RCV000151344 SCV000199318 benign not specified 2015-05-14 criteria provided, single submitter clinical testing Cys816Cys in Exon 20 of MYH9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (50/16508) of Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs113285582).
Preventiongenetics, part of Exact Sciences RCV000151344 SCV000309036 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389770 SCV000438422 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 RCV000274358 SCV000438423 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.
Invitae RCV000949865 SCV001096137 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000949865 SCV001767285 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294045 SCV002587497 likely benign Kidney disorder 2020-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000949865 SCV001927214 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000949865 SCV001965299 likely benign not provided no assertion criteria provided clinical testing

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