ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=)

gnomAD frequency: 0.00025  dbSNP: rs201196538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951485 SCV001097889 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-10-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701372 SCV001917310 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727825 SCV001974826 likely benign not provided no assertion criteria provided clinical testing

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