ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.507C>T (p.Asn169=)

gnomAD frequency: 0.00013  dbSNP: rs143096101
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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 RCV001456822 SCV001660610 likely benign PRPH2-related disorder 2023-10-11 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888171 SCV004707352 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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