ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.937-2A>T

dbSNP: rs1578281565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987332 SCV001136600 pathogenic Retinitis pigmentosa 4 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004726755 SCV005330390 likely pathogenic not provided 2024-08-01 criteria provided, single submitter clinical testing RHO: PVS1:Strong, PM2, PS1:Supporting
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818094 SCV005071514 likely pathogenic Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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