ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.407A>G (p.Glu136Gly)

gnomAD frequency: 0.00002  dbSNP: rs761117759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001478234 SCV001682500 likely benign not provided 2023-10-20 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888202 SCV004705364 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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