ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.2T>C (p.Met1Thr)

dbSNP: rs777625354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409421 SCV000486871 likely pathogenic Neuronal ceroid lipofuscinosis 3 2016-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003333982 SCV004041962 likely pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing CLN3: PM2, PM3, PS1:Moderate, PVS1:Moderate

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