ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.362-30G>A

gnomAD frequency: 0.00361  dbSNP: rs147055245
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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 RCV001225243 SCV001397495 benign Glanzmann thrombasthenia 2020-07-02 reviewed by expert panel curation The NM_000212.2:c.362-30G>A intronic variant is reported at a high frequency in South Asians in gnomAD and 1000 Genomes population databases (0.047) and is not predicted to have an impact on splicing. It is classified benign as the variant meets criteria for BA1. GT-specific criteria applied: BA1 and BP7.
Breakthrough Genomics, Breakthrough Genomics RCV004710261 SCV005249335 benign not provided criteria provided, single submitter not provided

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