ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.52A>T (p.Lys18Ter)

dbSNP: rs758725010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV001280918 SCV002581164 likely pathogenic Cone-rod dystrophy 20 2022-07-28 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280918 SCV001468265 likely pathogenic Cone-rod dystrophy 20 2020-05-06 no assertion criteria provided clinical testing

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