ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1378+1G>T

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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 RCV005026147 SCV005652769 likely pathogenic Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2024-02-16 criteria provided, single submitter clinical testing

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