ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.216T>C (p.Cys72=)

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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 RCV003593046 SCV004282670 likely benign PRPH2-related disorder 2023-06-23 criteria provided, single submitter clinical testing

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