ClinVar Miner

Submissions for variant NM_012120.3(CD2AP):c.1814+89G>A

gnomAD frequency: 0.01578  dbSNP: rs78312512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766163 SCV002007975 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001766163 SCV005226091 likely benign not provided criteria provided, single submitter not provided

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