ClinVar Miner

Submissions for variant NM_030948.3:c.251-63908_415+29843dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV002253060 SCV002523168 likely pathogenic PHACTR1-related neurodevelopmental condition 2021-09-03 criteria provided, single submitter clinical testing

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