ClinVar Miner

Submissions for variant NM_000944.5(PPP3CA):c.955+18C>T

dbSNP: rs370681817
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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 RCV002179215 SCV002484886 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496104 SCV002803292 likely benign Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 2021-10-08 criteria provided, single submitter clinical testing

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