ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.783T>C (p.Gly261=)

gnomAD frequency: 0.50077  dbSNP: rs762667
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Total submissions: 13
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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 RCV000036250 SCV000059902 benign not specified 2007-03-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000036250 SCV000232496 benign not specified 2014-11-07 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000036250 SCV000303314 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359913 SCV000374216 benign Autosomal dominant nonsyndromic hearing loss 11 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 RCV000265255 SCV000374217 benign Autosomal recessive nonsyndromic hearing loss 2 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 RCV000320317 SCV000374218 benign Usher syndrome type 1 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 RCV001512275 SCV001719661 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000265255 SCV001749124 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000320317 SCV001749125 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000359913 SCV001749279 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001512275 SCV001885470 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496556 SCV002810589 benign Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2021-08-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275898 SCV001461549 benign Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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