ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) (rs61751449)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012617 SCV000032852 pathogenic Mental retardation, X-linked, syndromic 13 2006-09-12 no assertion criteria provided literature only
RettBASE RCV000416315 SCV000188308 pathogenic Rett syndrome 2016-04-26 no assertion criteria provided research

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