ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1827G>A (p.Gln609=)

gnomAD frequency: 0.00002  dbSNP: rs748138553
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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 RCV001411542 SCV001613605 likely benign not provided 2024-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531252 SCV004747933 likely benign PDE6B-related disorder 2019-06-21 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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