ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.547G>C (p.Asp183His)

dbSNP: rs137852541
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147280 SCV003834808 likely pathogenic Arts syndrome 2022-12-22 criteria provided, single submitter clinical testing
OMIM RCV000010607 SCV000030833 pathogenic Phosphoribosylpyrophosphate synthetase superactivity 1995-11-01 flagged submission literature only

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