ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.1722C>T (p.Asp574=)

gnomAD frequency: 0.04242  dbSNP: rs11756446
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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 RCV000038289 SCV000061958 benign not specified 2009-06-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000038289 SCV000310767 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280716 SCV000465396 likely benign Autosomal recessive nonsyndromic hearing loss 37 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.
Illumina Laboratory Services, Illumina RCV000338118 SCV000465397 benign Autosomal dominant nonsyndromic hearing loss 22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811270 SCV000604421 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000038289 SCV000731101 benign not specified 2017-08-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001811270 SCV002456810 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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