ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.908_911del (p.Met303fs) (rs1602220706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000853623 SCV000899235 pathogenic Syndromic X-linked intellectual disability Snyder type criteria provided, single submitter clinical testing
GeneReviews RCV000853623 SCV001167184 pathogenic Syndromic X-linked intellectual disability Snyder type 2020-01-30 no assertion criteria provided literature only

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