ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.99G>A (p.Lys33=)

dbSNP: rs1602893298
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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 RCV002209651 SCV002363565 likely benign Charcot-Marie-Tooth Neuropathy X 2021-06-05 criteria provided, single submitter clinical testing

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