ClinVar Miner

Submissions for variant NM_000419.3(ITGA2B):c.1787T>C (rs76811038)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV000003034 SCV001397508 uncertain significance Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The NM_000419.3:c.1787T>C that results in the Ile596Thr missense change is reported in at least 2 homozygous individuals with Glanzmann Thrombasthenia (PMIDs: 9734640, 22513797). It was found to co-segregate with disease in 1 additional family member. It is reported in gonmAD (v3 and v2.1.1 combined) at a frequency >0.0001. In summary, there is insufficient evidence at this time to classify the Ile596Thr variant. GT-specific codes applied: PP4_Strong, PP1.
OMIM RCV000003034 SCV000023192 pathogenic Glanzmann thrombasthenia 1998-09-01 no assertion criteria provided literature only

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