ClinVar Miner

Submissions for variant NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)

dbSNP: rs1057517671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000495945 SCV000298219 pathogenic Amelogenesis imperfecta 2016-08-01 no assertion criteria provided research Predicted to remove two of the protein's transmembrane helices and two pH sensing histidine residues.
OMIM RCV000412608 SCV000490247 pathogenic Amelogenesis imperfecta, hypomaturation type, IIa6 2016-11-21 no assertion criteria provided literature only

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