ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del)

dbSNP: rs746122572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263472 SCV002545595 benign not provided 2022-07-01 criteria provided, single submitter clinical testing RP1L1: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002502080 SCV002807720 likely benign Occult macular dystrophy; Retinitis pigmentosa 88 2021-11-10 criteria provided, single submitter clinical testing

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