ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.444G>A (p.Glu148=) (rs201285459)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271803 SCV000481417 likely benign Arts syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331549 SCV000481418 likely benign Charcot-Marie-Tooth, X-linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386019 SCV000481419 likely benign Phosphoribosylpyrophosphate synthetase superactivity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296329 SCV000481420 likely benign Nonsyndromic Hearing Loss, X-Linked 2016-06-14 criteria provided, single submitter clinical testing

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