ClinVar Miner

Submissions for variant NM_004698.4(PRPF3):c.1479C>G (p.Pro493=)

gnomAD frequency: 0.00001  dbSNP: rs782790176
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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 RCV002147799 SCV002421455 likely benign not provided 2021-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933499 SCV004754501 likely benign PRPF3-related disorder 2019-07-22 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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