ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met)

gnomAD frequency: 0.00008  dbSNP: rs181095314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387925 SCV000471100 likely benign Occult macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888862 SCV004705850 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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