ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.517G>A (p.Ala173Thr)

gnomAD frequency: 0.00033  dbSNP: rs139731264
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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 RCV001238364 SCV001411169 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813966 SCV005070327 uncertain significance Retinal dystrophy 2013-01-01 no assertion criteria provided clinical testing

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