ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.4361C>T (p.Thr1454Met)

gnomAD frequency: 0.00003  dbSNP: rs371607035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV001149281 SCV001310225 uncertain significance Gray platelet syndrome 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001149281 SCV002515699 uncertain significance Gray platelet syndrome no assertion criteria provided research

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