ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1454A>G (p.Asn485Ser)

gnomAD frequency: 0.00051  dbSNP: rs151027205
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
Genetic Services Laboratory, University of Chicago RCV000194884 SCV000246604 uncertain significance not specified 2015-02-26 criteria provided, single submitter clinical testing
GeneDx RCV001682908 SCV001901895 benign not provided 2019-11-15 criteria provided, single submitter clinical testing

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