ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.138A>G (p.Leu46=)

gnomAD frequency: 0.00018  dbSNP: rs143169609
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002207701 SCV002365168 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498237 SCV002794861 likely benign Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2021-08-12 criteria provided, single submitter clinical testing

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