ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1356+18A>G

gnomAD frequency: 0.44557  dbSNP: rs889187
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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 RCV000249389 SCV000311663 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000249389 SCV000860121 benign not specified 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522264 SCV001731778 benign Familial hemophagocytic lymphohistiocytosis 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001610679 SCV001841043 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522264 SCV002062138 benign Familial hemophagocytic lymphohistiocytosis 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000249389 SCV004101932 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 70% of patients studied by a panel of primary immunodeficiencies. Number of patients: 67. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001610679 SCV005313179 benign not provided criteria provided, single submitter not provided

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