ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)

gnomAD frequency: 0.00526  dbSNP: rs111292798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250597 SCV000302850 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000250597 SCV002072093 benign not specified 2017-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494699 SCV002796580 benign Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 2022-04-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409373 SCV004139447 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GP1BA: BS1

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