ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.443A>G (p.Gln148Arg) (rs397515551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000055905 SCV000086915 pathologic Syndromic X-linked intellectual disability Snyder type 2013-06-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health RCV000055905 SCV000188644 pathogenic Syndromic X-linked intellectual disability Snyder type no assertion criteria provided not provided Converted during submission to Pathogenic.

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