ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile)

dbSNP: rs267608629
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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 RCV001064735 SCV001229653 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030557 SCV004921124 likely benign Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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