ClinVar Miner

Submissions for variant NM_001277.3(CHKA):c.186GCTGCC[3] (p.63LP[3])

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003764476 SCV004562271 uncertain significance Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures 2023-11-22 criteria provided, single submitter clinical testing

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