ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1401+4_1401+48del

dbSNP: rs768567008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950116 SCV001096400 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000950116 SCV001841187 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818086 SCV005071354 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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