ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.540A>G (p.Pro180=)

gnomAD frequency: 0.00004  dbSNP: rs777005487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442756 SCV001645711 likely benign Leber congenital amaurosis 12 2022-05-24 criteria provided, single submitter clinical testing

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