ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) (rs137852818)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760252 SCV000890087 likely pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4 2017-03-08 criteria provided, single submitter clinical testing
OMIM RCV000012290 SCV000032524 pathogenic FG syndrome 4 2009-05-01 no assertion criteria provided literature only

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