ClinVar Miner

Submissions for variant NM_002764.3(PRPS1):c.-153del (rs768856537)

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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 RCV000359974 SCV000481413 likely benign Charcot-Marie-Tooth, X-linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270057 SCV000481414 likely benign Phosphoribosylpyrophosphate synthetase superactivity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325171 SCV000481415 likely benign Arts syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384451 SCV000481416 likely benign Nonsyndromic Hearing Loss, X-Linked 2016-06-14 criteria provided, single submitter clinical testing

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