ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs)

dbSNP: rs2067694467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266016 SCV001444188 pathogenic Inborn genetic diseases 2018-03-01 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265447 SCV001443579 pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2018-05-18 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-05-18 and interpreted as Pathogenic. Variant was initially reported on 2018-03-29 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.

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