ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.705-11T>C

gnomAD frequency: 0.00052  dbSNP: rs190164271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616333 SCV001839177 likely benign not provided 2020-03-27 criteria provided, single submitter clinical testing
Invitae RCV002072373 SCV002329095 benign Charcot-Marie-Tooth Neuropathy X 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495966 SCV002796203 likely benign Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity 2022-01-07 criteria provided, single submitter clinical testing

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