ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.384+18C>T

gnomAD frequency: 0.00037  dbSNP: rs3730253
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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 RCV002219606 SCV002371048 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507926 SCV002805057 likely benign Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2021-07-27 criteria provided, single submitter clinical testing

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