ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.642C>T (p.Cys214=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005045683 SCV005668724 uncertain significance Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3 2023-12-29 criteria provided, single submitter clinical testing

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