ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) (rs61749665)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078318 SCV000110164 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078318 SCV000302884 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001518075 SCV001726709 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-12-02 criteria provided, single submitter clinical testing
OMIM RCV000009947 SCV000030168 pathogenic Leber congenital amaurosis 1 1998-08-01 no assertion criteria provided literature only
Retina International RCV000084835 SCV000116971 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000084835 SCV000172504 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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