ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) (rs200474454)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000655945 SCV000586830 uncertain significance Mental retardation 30, X-linked criteria provided, single submitter research
Invitae RCV000927169 SCV001072747 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000927169 SCV001150426 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000655945 SCV001440865 likely benign Mental retardation 30, X-linked 2019-01-01 criteria provided, single submitter clinical testing

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