ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)

gnomAD frequency: 0.00130  dbSNP: rs201373710
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305249 SCV000444844 uncertain significance Gray platelet syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) RCV000595231 SCV000706401 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000595231 SCV001096167 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821044 SCV002071037 likely benign not specified 2020-03-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000595231 SCV004154358 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing NBEAL2: BP5, BS1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000305249 SCV004101049 uncertain significance Gray platelet syndrome 2023-11-02 no assertion criteria provided clinical testing

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