ClinVar Miner

Submissions for variant NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del)

dbSNP: rs2511874364
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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 RCV003153279 SCV003842238 uncertain significance Mayer-Rokitansky-Küster-Hauser syndrome type 2 2023-03-13 criteria provided, single submitter research

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