ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) (rs138125282)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000925502 SCV001071040 likely benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985112 SCV001133083 likely pathogenic Early infantile epileptic encephalopathy 2 2019-09-26 no assertion criteria provided clinical testing

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