ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.320C>A (p.Ala107Asp)

gnomAD frequency: 0.00004  dbSNP: rs775717423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949150 SCV001095388 likely benign Leber congenital amaurosis 13 2023-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275430 SCV001460580 likely benign Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004735910 SCV005348298 likely benign RDH12-related disorder 2024-09-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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