ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148350 SCV003835123 uncertain significance Developmental and epileptic encephalopathy, 76 2021-05-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696320 SCV005195524 uncertain significance not provided criteria provided, single submitter not provided

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