ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.933G>A (p.Lys311=)

gnomAD frequency: 0.00001  dbSNP: rs139566602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118675 SCV002448206 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816967 SCV005072713 likely benign Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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