ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)

gnomAD frequency: 0.00228  dbSNP: rs557108466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512972 SCV000608804 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV001082983 SCV001020834 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787615 SCV000926599 uncertain significance Progressive cone dystrophy (without rod involvement) 2018-04-01 no assertion criteria provided research

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