ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.691A>G (p.Asn231Asp)

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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 RCV001255786 SCV001432399 likely pathogenic Bilateral parasagittal parieto-occipital polymicrogyria no assertion criteria provided clinical testing

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