ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270403 SCV001450687 likely pathogenic Nicolaides-Baraitser syndrome 2020-03-09 no assertion criteria provided clinical testing

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