ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.48G>A (p.Leu16=)

dbSNP: rs1761920239
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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 RCV002169366 SCV002336593 likely benign PRPH2-related disorder 2021-03-04 criteria provided, single submitter clinical testing

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