ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.886A>C (p.Lys296Gln)

dbSNP: rs29001653
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001265162 SCV001443248 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814041 SCV005071621 likely pathogenic Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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