ClinVar Miner

Submissions for variant NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1])

dbSNP: rs869060239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501004 SCV000595024 benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Mendelics RCV000989682 SCV001140217 likely benign Bernard Soulier syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001598673 SCV001827354 benign not provided 2021-05-04 criteria provided, single submitter clinical testing

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