ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro)

dbSNP: rs869025593
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000208743 SCV000264578 pathogenic Arts syndrome 2016-03-01 no assertion criteria provided literature only
OMIM RCV000208721 SCV000264579 pathogenic Hearing loss, X-linked 1 2016-03-01 no assertion criteria provided literature only
GeneReviews RCV000208743 SCV002562252 not provided Arts syndrome no assertion provided literature only

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