ClinVar Miner

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

gnomAD frequency: 0.00057  dbSNP: 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 Laboratory Services, Illumina RCV000359974 SCV000481413 likely benign Charcot-Marie-Tooth, X-linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270057 SCV000481414 likely benign Phosphoribosylpyrophosphate synthetase superactivity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325171 SCV000481415 likely benign Arts syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002223132 SCV000481416 likely benign X-linked nonsyndromic hearing loss 2016-06-14 criteria provided, single submitter clinical testing

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