ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.315G>A (p.Ala105=)

gnomAD frequency: 0.00003  dbSNP: rs768455048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001424211 SCV001626804 likely benign Charcot-Marie-Tooth Neuropathy X 2024-01-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704544 SCV005206667 likely benign not provided criteria provided, single submitter not provided

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