ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004819971 SCV005440639 likely pathogenic Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures criteria provided, single submitter clinical testing PM2_Supporting+PS2_Supporting+PP3_Strong+PP2

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