ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.593G>C (p.Ser198Thr)

dbSNP: rs1800118213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310917 SCV001500900 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815329 SCV005069125 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided clinical testing

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