ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del)

dbSNP: rs1557135259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000445580 SCV000537167 uncertain significance Rett syndrome 2015-06-30 criteria provided, single submitter clinical testing

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