ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.371_372dup (p.Glu125fs)

gnomAD frequency: 0.00001  dbSNP: rs778525768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333441 SCV004040993 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2023-03-07 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003333441 SCV005871259 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2024-01-01 criteria provided, single submitter clinical testing PVS1

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