ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)

dbSNP: rs375978676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003145 SCV001161214 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Leiden Open Variation Database RCV001530230 SCV001744967 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Global Variome, with Curator vacancy, Julia Lopez, Manon Peeters.

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