ClinVar Miner

Submissions for variant NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) (rs188675529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shaikh Laboratory, University of Colorado RCV000498990 SCV000484411 likely pathogenic Mental retardation 3, X-linked 2016-12-07 criteria provided, single submitter research A patient who presented with phenotypic features that overlap cblX, but did not have any mutations in either MMACHC or HCFC. Using ACMG standards and guidelines for the interpretation of sequence variants (PMID: 25741868). PS3, PM2 PP2, PP3.

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