ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) (rs56359259)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419467 SCV000511405 likely benign not provided 2016-12-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory,University of Chicago RCV000501181 SCV000593882 benign not specified 2016-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717666 SCV000848521 uncertain significance History of neurodevelopmental disorder 2019-03-18 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000419467 SCV001104745 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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