ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.1357-2A>C (rs200557641)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717059 SCV000847905 uncertain significance History of neurodevelopmental disorder 2019-01-24 criteria provided, single submitter clinical testing Conflicting evidence
Invitae RCV000889161 SCV001032823 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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