ClinVar Miner

Submissions for variant NM_000930.5(PLAT):c.1481G>C (p.Gly494Ala)

gnomAD frequency: 0.00107  dbSNP: rs61755432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004693428 SCV005195905 uncertain significance not provided criteria provided, single submitter not provided
Birmingham Platelet Group; University of Birmingham RCV001270618 SCV001450917 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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