ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp)

gnomAD frequency: 0.00005  dbSNP: rs755223158
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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 RCV000983924 SCV001131973 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV004726753 SCV005333522 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17964524)

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