ClinVar Miner

Submissions for variant NM_001161546.2(PROB1):c.671G>A (p.Gly224Asp)

gnomAD frequency: 0.00001  dbSNP: rs1114167279
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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 RCV000491696 SCV000267606 uncertain significance Keratoconus 1 2016-04-21 no assertion criteria provided research

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