ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.1013+7A>G

gnomAD frequency: 0.00074  dbSNP: rs149494070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307623 SCV000473248 uncertain significance Roberts-SC phocomelia syndrome 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.
Eurofins Ntd Llc (ga) RCV000730627 SCV000858378 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Invitae RCV000730627 SCV001044649 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922629 SCV004741791 likely benign ESCO2-related condition 2019-09-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001828361 SCV002083251 likely benign Roberts syndrome 2019-10-23 no assertion criteria provided clinical testing

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