ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.933C>T (p.Ser311=)

dbSNP: rs137853904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489673 SCV001694221 likely benign PRPH2-related disorder 2023-11-27 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086931 SCV000119176 not provided not provided no assertion provided not provided

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