ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)

gnomAD frequency: 0.56709  dbSNP: rs2276293
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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 RCV000036201 SCV000059853 benign not specified 2007-03-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000036201 SCV000303303 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361573 SCV000374465 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 RCV000266939 SCV000374466 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.
Illumina Laboratory Services, Illumina RCV000326880 SCV000374467 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.
Invitae RCV001512277 SCV001719663 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000326880 SCV001749153 benign Autosomal dominant nonsyndromic hearing loss 11 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000361573 SCV001749154 benign Autosomal recessive nonsyndromic hearing loss 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000266939 SCV001749155 benign Usher syndrome type 1 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001512277 SCV001862996 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275523 SCV001460738 benign Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036201 SCV001743791 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036201 SCV001957980 benign not specified no assertion criteria provided clinical testing

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