ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.613G>A (p.Val205Ile)

gnomAD frequency: 0.01200  dbSNP: rs144586070
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001083601 SCV000415678 likely benign Familial hemophagocytic lymphohistiocytosis 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514754 SCV000610773 likely benign not provided 2017-06-06 criteria provided, single submitter clinical testing
Invitae RCV001083601 SCV000648537 benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263592 SCV002543004 benign Autoinflammatory syndrome 2022-02-25 criteria provided, single submitter clinical testing

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