ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.455T>C (p.Leu152Pro)

dbSNP: rs80338676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178182 SCV000230197 uncertain significance not provided 2014-07-07 criteria provided, single submitter clinical testing
OMIM RCV000010614 SCV000030840 pathogenic Arts syndrome 2007-09-01 no assertion criteria provided literature only
GeneReviews RCV000010614 SCV000040928 not provided Arts syndrome no assertion provided literature only

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