ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)

gnomAD frequency: 0.43223  dbSNP: rs10001
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253160 SCV000311664 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311684 SCV000415687 benign Familial hemophagocytic lymphohistiocytosis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000253160 SCV000540475 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001519280 SCV001728121 benign Familial hemophagocytic lymphohistiocytosis 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001660300 SCV001881153 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519280 SCV002062149 benign Familial hemophagocytic lymphohistiocytosis 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000253160 SCV004101925 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 71% of patients studied by a panel of primary immunodeficiencies. Number of patients: 68. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001660300 SCV005313185 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001660300 SCV002074785 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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