ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)

gnomAD frequency: 0.47702  dbSNP: rs7927472
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Total submissions: 12
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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 RCV000036162 SCV000059814 benign not specified 2007-03-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000036162 SCV000229764 benign not specified 2014-07-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000036162 SCV000303299 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296516 SCV000374395 benign Autosomal recessive nonsyndromic hearing loss 2 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 RCV000351371 SCV000374396 benign Autosomal dominant nonsyndromic hearing loss 11 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 RCV000403200 SCV000374397 benign Usher syndrome type 1 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.
Invitae RCV001510011 SCV001716935 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000403200 SCV001749140 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000351371 SCV001749294 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000296516 SCV001749295 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001510011 SCV001940619 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273502 SCV001456613 benign Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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