ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001175282 SCV001338891 not provided Angelman syndrome; Early infantile epileptic encephalopathy 2 no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 01-11-2019 by Lab or GTR ID 1238. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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