ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.1335C>G (p.Val445=)

dbSNP: rs1912780033
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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 RCV001506941 SCV001711879 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888235 SCV004706188 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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