ClinVar Miner

Submissions for variant NM_138272.3(MPIG6B):c.621G>T (p.Pro207=)

dbSNP: rs147600887
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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 RCV004793371 SCV005412035 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing PVS1_moderate
Birmingham Platelet Group; University of Birmingham RCV001270598 SCV001450897 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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