ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005143 SCV003299326 likely benign Glanzmann thrombasthenia 2023-07-19 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333807 SCV004041716 uncertain significance Platelet-type bleeding disorder 16 2023-10-09 no assertion criteria provided clinical testing

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