ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.70A>T (p.Lys24Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005020505 SCV005649562 likely pathogenic Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 2024-03-05 criteria provided, single submitter clinical testing

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