ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.295-2A>C

gnomAD frequency: 0.00003  dbSNP: rs1478660606
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672581 SCV000797696 likely pathogenic Neuronal ceroid lipofuscinosis 3 2018-02-06 criteria provided, single submitter clinical testing

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