ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.783-7del

gnomAD frequency: 0.00001  dbSNP: rs746185638
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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 RCV002169850 SCV002331103 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507867 SCV002810029 likely benign Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2022-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538779 SCV004712209 likely benign PPP3CA-related disorder 2021-03-09 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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