ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2013C>T (p.Leu671=)

gnomAD frequency: 0.00003  dbSNP: rs769405151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107944 SCV002392688 likely benign not provided 2024-04-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923606 SCV004737897 likely benign PDE6A-related disorder 2019-12-30 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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