ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=)

gnomAD frequency: 0.02033  dbSNP: rs142351773
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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) RCV000175392 SCV000226866 benign not specified 2014-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000528175 SCV000649522 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001557471 SCV001471542 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001557471 SCV001779238 likely benign not provided 2021-05-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001557471 SCV005218699 likely benign not provided criteria provided, single submitter not provided

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