ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.582G>A (p.Gln194=)

gnomAD frequency: 0.00003  dbSNP: rs139824802
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001272623 SCV001642722 likely benign Neuronal ceroid lipofuscinosis 2020-06-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272623 SCV001454740 uncertain significance Neuronal ceroid lipofuscinosis 2020-01-24 no assertion criteria provided clinical testing

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