ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.36G>A (p.Ala12=)

gnomAD frequency: 0.00003  dbSNP: rs1048000119
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
Eurofins Ntd Llc (ga) RCV000592887 SCV000708874 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV001478203 SCV001682468 likely benign Neuronal ceroid lipofuscinosis 2023-10-22 criteria provided, single submitter clinical testing

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