ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu)

gnomAD frequency: 0.00018  dbSNP: rs200586401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397931 SCV001599693 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001762668 SCV001999301 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12187427)

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