ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.375G>A (p.Ser125=)

gnomAD frequency: 0.00002  dbSNP: rs777764923
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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 RCV002099452 SCV002329069 likely benign PRPH2-related disorder 2023-04-24 criteria provided, single submitter clinical testing

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