ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.588G>A (p.Leu196=)

gnomAD frequency: 0.00024  dbSNP: rs142339019
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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 RCV002124698 SCV002408794 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494285 SCV002801158 likely benign Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2022-03-02 criteria provided, single submitter clinical testing

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