ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.615C>A (p.Leu205=)

gnomAD frequency: 0.00006  dbSNP: rs568227769
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519235 SCV001728065 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2025-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710290 SCV005251557 benign not provided criteria provided, single submitter not provided

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