ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)

gnomAD frequency: 0.00174  dbSNP: rs113253213
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081173 SCV000113081 benign not specified 2013-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000712201 SCV000519003 likely benign not provided 2020-08-30 criteria provided, single submitter clinical testing
Invitae RCV001086305 SCV000638978 benign Muscular dystrophy-dystroglycanopathy type B6 2024-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712201 SCV000842638 benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001147368 SCV001308187 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001086305 SCV001308188 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000712201 SCV002496738 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing

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