ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.597C>T (p.Asn199=)

gnomAD frequency: 0.00001  dbSNP: rs1419638211
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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 RCV001450854 SCV001654472 likely benign PRPH2-related disorder 2022-06-13 criteria provided, single submitter clinical testing

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