ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.307-2A>G

dbSNP: rs1556299881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623501 SCV000741258 pathogenic Inborn genetic diseases 2016-01-07 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003992348 SCV004812060 likely pathogenic Arts syndrome 2023-01-25 no assertion criteria provided clinical testing

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