ClinVar Miner

Submissions for variant NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met)

gnomAD frequency: 0.00001  dbSNP: rs1319791047
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV003153280 SCV003842239 uncertain significance Mayer-Rokitansky-Küster-Hauser syndrome type 2 2023-03-13 criteria provided, single submitter research

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