ClinVar Miner

Submissions for variant NM_145200.5(CABP4):c.541+7_541+8delinsGC

dbSNP: rs34039523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246900 SCV000316090 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289465 SCV000373499 uncertain significance Congenital Stationary Night Blindness, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521848 SCV001731262 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816461 SCV005073077 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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