ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.574+10A>G

gnomAD frequency: 0.00002  dbSNP: rs771984157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000314584 SCV001809927 uncertain significance Glanzmann thrombasthenia 2024-04-16 reviewed by expert panel curation The intronic variant NM_000419.5(ITGA2B):c.574+10A>G has not been reported in the literature. It has previously been submitted to ClinVar (SCV000403390.2 and SCV001006746.1) however the affected status of the individuals is not reported. The highest population minor allele frequency in gnomAD v4.0.0 is 0.00003843 (2/52046alleles) in the Admixed American population, which is lower than the ClinGen PD VCEP threshold (<0.0001; PM2_Supporting). It is not predicted to have an impact on splicing (BP7). In summary, there is insufficient evidence at this time to classify the c.574+10A>G variant. GT-specific criteria applied: PM2_supporting, BP7.
Illumina Laboratory Services, Illumina RCV000314584 SCV000403390 uncertain significance Glanzmann thrombasthenia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865732 SCV001006746 likely benign not provided 2018-07-06 criteria provided, single submitter clinical testing

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