ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.2516C>G (p.Thr839Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786870 SCV000925767 likely pathogenic Cone-rod dystrophy 6 2018-09-24 no assertion criteria provided clinical testing

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