ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1590G>A (p.Ala530=)

gnomAD frequency: 0.00904  dbSNP: rs61736589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253378 SCV000311670 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000542558 SCV000648533 benign Familial hemophagocytic lymphohistiocytosis 5 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000542558 SCV001296176 benign Familial hemophagocytic lymphohistiocytosis 5 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262895 SCV002542992 likely benign Autoinflammatory syndrome 2019-01-01 criteria provided, single submitter clinical testing

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