ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.890del (p.Pro297fs) (rs154774639)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669748 SCV000794529 likely pathogenic Neuronal ceroid lipofuscinosis 6 2017-09-28 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000058914 SCV001430898 pathogenic not provided 2020-07-14 criteria provided, single submitter clinical testing PVS1, PM2, PM3
SNPedia RCV000058914 SCV000090435 not provided not provided no assertion provided not provided

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