ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.816T>C (p.Ile272=)

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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 RCV003757093 SCV004549418 likely benign PRPH2-related disorder 2022-12-20 criteria provided, single submitter clinical testing

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