ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6545del (p.Asn2182fs)

dbSNP: rs1346842287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504846 SCV000599162 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Genomics England Pilot Project, Genomics England RCV001542753 SCV001760185 likely pathogenic Retinitis pigmentosa 25 no assertion criteria provided clinical testing

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