ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.*178G>A (rs576933222)

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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 RCV000406997 SCV000481445 likely benign Charcot-Marie-Tooth, X-linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288158 SCV000481446 likely benign Arts syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347733 SCV000481447 likely benign Nonsyndromic Hearing Loss, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407006 SCV000481448 likely benign Phosphoribosylpyrophosphate synthetase superactivity 2016-06-14 criteria provided, single submitter clinical testing

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