ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.868A>G (p.Ile290Val)

gnomAD frequency: 0.00001  dbSNP: rs1229690158
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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 RCV001406555 SCV001608510 likely benign Charcot-Marie-Tooth Neuropathy X 2024-01-31 criteria provided, single submitter clinical testing

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