ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.4088GAG[1] (p.Gly1364del)

dbSNP: rs886062578
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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 RCV000283871 SCV000471124 uncertain significance Occult macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721342 SCV005330884 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing RP1L1: PM2

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