ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)

gnomAD frequency: 0.00057  dbSNP: rs61749682
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356487 SCV000339210 likely benign not specified 2016-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000084834 SCV000692891 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084922 SCV001098382 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000084834 SCV002003388 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Retina International RCV000084834 SCV000116970 not provided not provided no assertion provided not provided

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