ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.2T>G (p.Met1Arg)

dbSNP: rs121918565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250267 SCV002518913 pathogenic Pigmentary retinal dystrophy 2022-05-04 criteria provided, single submitter clinical testing

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