ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) (rs154774635)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675107 SCV000800654 uncertain significance Neuronal ceroid lipofuscinosis 6 2018-01-17 criteria provided, single submitter clinical testing
OMIM RCV000023574 SCV000044865 pathogenic Adult neuronal ceroid lipofuscinosis 2011-05-13 no assertion criteria provided literature only
SNPedia RCV000058907 SCV000090428 not provided not provided no assertion provided not provided

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