ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.545dup (p.Asn182fs)

dbSNP: rs2152010877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001787315 SCV002029210 pathogenic Choroidal dystrophy, central areolar 2 2021-10-04 no assertion criteria provided clinical testing

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