ClinVar Miner

Submissions for variant NM_002929.3(GRK1):c.1138G>T (p.Val380Phe)

gnomAD frequency: 0.00002  dbSNP: rs995065177
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine, University of Leeds RCV001175398 SCV001245355 likely pathogenic Oguchi disease-2 2019-02-20 no assertion criteria provided research

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