ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.498C>T (p.Cys166=)

gnomAD frequency: 0.00003  dbSNP: rs759752477
Minimum review status: Collection method:
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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 RCV001453855 SCV001657563 likely benign PRPH2-related disorder 2023-01-23 criteria provided, single submitter clinical testing

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