ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.252G>A (p.Arg84=)

dbSNP: rs983928739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002177929 SCV002349537 likely benign Charcot-Marie-Tooth Neuropathy X 2021-04-16 criteria provided, single submitter clinical testing

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