ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.520+7T>C

gnomAD frequency: 0.00036  dbSNP: rs200836202
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115872 SCV002405309 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002115872 SCV004143986 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PPP1CB: BP4, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479408 SCV004222941 benign not specified 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923639 SCV004739820 likely benign PPP1CB-related disorder 2019-05-23 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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