ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.2721C>T (p.Thr907=)

gnomAD frequency: 0.00435  dbSNP: rs148112044
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Total submissions: 7
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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 RCV000151337 SCV000199311 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr907Thr in Exon 22 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 1.8% (69/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs148112044).
Preventiongenetics, part of Exact Sciences RCV000151337 SCV000309038 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348023 SCV000438410 benign MYH9-related disorder 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 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 RCV000393134 SCV000438411 benign Autosomal dominant nonsyndromic hearing loss 17 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000969749 SCV001117279 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000969749 SCV001913444 benign not provided 2018-09-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969749 SCV004147803 benign not provided 2022-09-01 criteria provided, single submitter clinical testing MYH9: BS1, BS2

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