ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.183C>T (p.Gly61=)

gnomAD frequency: 0.00001  dbSNP: rs371538576
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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 RCV000874565 SCV001016757 likely benign Charcot-Marie-Tooth Neuropathy X 2023-09-08 criteria provided, single submitter clinical testing

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