ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)

gnomAD frequency: 0.01496  dbSNP: rs28743021
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180103 SCV000232477 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
Invitae RCV001086101 SCV001098086 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000180103 SCV001159400 benign not specified 2018-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000084841 SCV001950577 benign not provided 2020-11-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18332321, 22995991, 20981092, 12365911)
Fulgent Genetics, Fulgent Genetics RCV002477249 SCV002800068 likely benign Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2021-12-14 criteria provided, single submitter clinical testing
Retina International RCV000084841 SCV000116977 not provided not provided no assertion provided not provided

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