ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)

gnomAD frequency: 0.00095  dbSNP: rs61749678
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000084830 SCV000705386 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087384 SCV001091982 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000084830 SCV003917886 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing GUCY2D: BP4, BP7
Retina International RCV000084830 SCV000116966 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001705813 SCV001925265 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000084830 SCV001967397 likely benign not provided no assertion criteria provided clinical testing

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