ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)

dbSNP: rs61755816
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Retina International RCV000085018 SCV000117154 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003139 SCV001161208 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Leiden Open Variation Database RCV000085018 SCV001745108 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, Manon Peeters.

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