ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=)

gnomAD frequency: 0.00128  dbSNP: rs146849545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179271 SCV000231493 uncertain significance not provided 2014-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081206 SCV001091681 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing

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