ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1518C>T (p.Thr506=)

gnomAD frequency: 0.00002  dbSNP: rs779132852
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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 RCV001452446 SCV001656111 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001796501 SCV002034712 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796501 SCV002038090 likely benign not provided no assertion criteria provided clinical testing

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