ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.435C>A (p.Ile145=)

gnomAD frequency: 0.00001  dbSNP: rs904414208
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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 RCV001450266 SCV001653868 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243554 SCV005893096 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing GUCY2D: BP4, BP7

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