ClinVar Miner

Submissions for variant NM_001352913.2(PPP2R5C):c.1018-4G>C

gnomAD frequency: 0.00273  dbSNP: rs141771468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962350 SCV001109427 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962350 SCV004010321 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing PPP2R5C: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003960720 SCV004766960 benign PPP2R5C-related disorder 2019-07-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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