ClinVar Miner

Submissions for variant NM_003764.4(STX11):c.546G>A (p.Glu182=)

gnomAD frequency: 0.00274  dbSNP: rs146949718
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246627 SCV000309825 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000644579 SCV000460634 likely benign Familial hemophagocytic lymphohistiocytosis 4 2018-01-12 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.
Invitae RCV000644579 SCV000766279 benign Familial hemophagocytic lymphohistiocytosis 4 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262883 SCV002542968 benign Autoinflammatory syndrome 2020-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001699090 SCV004160434 benign not provided 2022-11-01 criteria provided, single submitter clinical testing STX11: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699090 SCV001926601 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246627 SCV001965309 benign not specified no assertion criteria provided clinical testing

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