ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.92T>C (p.Val31Ala)

gnomAD frequency: 0.00078  dbSNP: rs201827537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004792424 SCV005412612 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing BS1, BS2, PM1
GenomeConnect, ClinGen RCV000709883 SCV000840224 not provided Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Pseudo von Willebrand disease no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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