ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.528-10G>A

dbSNP: rs368797093
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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 RCV002658002 SCV002969924 likely benign not provided 2022-04-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757544 SCV005342995 likely benign PRPF31-related disorder 2020-03-18 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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