ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.1778T>C (p.Val593Ala)

gnomAD frequency: 0.00001  dbSNP: rs782233167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000207015 SCV000244058 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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