ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)

gnomAD frequency: 0.00004  dbSNP: rs770535800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728082 SCV000855613 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728082 SCV001669498 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889968 SCV004706178 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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