ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.677+1G>T

dbSNP: rs1057517287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410679 SCV000487049 likely pathogenic Neuronal ceroid lipofuscinosis 3 2016-10-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410679 SCV004214338 likely pathogenic Neuronal ceroid lipofuscinosis 3 2023-04-21 criteria provided, single submitter clinical testing

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