ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)

dbSNP: rs886051447
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361420 SCV000393739 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000674466 SCV000799806 uncertain significance Ceroid lipofuscinosis, neuronal, 6A 2018-05-08 criteria provided, single submitter clinical testing

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