ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)

gnomAD frequency: 0.00430  dbSNP: rs34642406
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001086593 SCV000438184 likely benign Muscular dystrophy-dystroglycanopathy type B6 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 RCV000394208 SCV000438185 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 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.
GeneDx RCV000712200 SCV000520041 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000417616 SCV000595563 likely benign not specified 2016-06-03 criteria provided, single submitter clinical testing
Invitae RCV001086593 SCV000638977 benign Muscular dystrophy-dystroglycanopathy type B6 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712200 SCV000842637 benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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