ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly)

dbSNP: rs281875207
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UniProtKB/Swiss-Prot RCV000059663 SCV000091233 not provided not provided no assertion provided not provided
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270388 SCV001450668 pathogenic Nicolaides-Baraitser syndrome no assertion criteria provided clinical testing

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