ClinVar Miner

Submissions for variant NM_003764.4(STX11):c.839G>A (p.Cys280Tyr)

gnomAD frequency: 0.00215  dbSNP: rs34282765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644580 SCV000766280 likely benign Familial hemophagocytic lymphohistiocytosis 4 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000644580 SCV001315060 benign Familial hemophagocytic lymphohistiocytosis 4 2017-05-03 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001766383 SCV001998252 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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