ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.948C>T (p.Val316=)

dbSNP: rs2147687492
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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 RCV002124093 SCV002446403 likely benign Charcot-Marie-Tooth Neuropathy X 2022-09-23 criteria provided, single submitter clinical testing

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