ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) (rs80338675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010615 SCV000030841 pathogenic Arts syndrome 2007-09-01 no assertion criteria provided literature only
GeneReviews RCV000010615 SCV000040926 pathologic Arts syndrome 2010-11-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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