ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.828+20G>A

gnomAD frequency: 0.00014  dbSNP: rs765805559
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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 RCV001455516 SCV001659278 likely benign PRPH2-related disorder 2024-01-12 criteria provided, single submitter clinical testing

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