ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) (rs201312113)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711430 SCV000564932 benign not provided 2020-01-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26505888, 30093711)
Invitae RCV001085197 SCV000642161 benign Familial focal epilepsy with variable foci 2020-10-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711430 SCV000841795 benign not provided 2018-04-27 criteria provided, single submitter clinical testing
GeneReviews RCV000254580 SCV000321045 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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