ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=)

gnomAD frequency: 0.00029  dbSNP: rs117423703
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000118550 SCV000335455 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084893 SCV000387401 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084893 SCV000648967 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-01-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713719 SCV000844346 benign not provided 2018-02-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713719 SCV004134228 benign not provided 2023-01-01 criteria provided, single submitter clinical testing SYNE2: BP4, BP7, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000118550 SCV000152956 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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