ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.623_625dup (p.Gly208dup)

dbSNP: rs2152005366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003888297 SCV004707344 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Leiden Open Variation Database RCV001530312 SCV001745082 uncertain significance not provided 2020-06-19 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Yoshito Koyanagi.

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