ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.603T>C (p.Asp201=)

gnomAD frequency: 0.00001  dbSNP: rs1039760665
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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 RCV002065846 SCV002346683 likely benign PRPH2-related disorder 2021-10-13 criteria provided, single submitter clinical testing

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