ClinVar Miner

Submissions for variant NM_001135995.2(ATXN3L):c.865A>T (p.Lys289Ter)

gnomAD frequency: 0.00003  dbSNP: rs772014789
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001249491 SCV001423481 likely benign Intellectual disability 2017-12-01 no assertion criteria provided clinical testing

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