ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3500C>A (p.Ser1167Tyr)

gnomAD frequency: 0.00001  dbSNP: rs2067699917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265439 SCV001443570 uncertain significance Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2019-03-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-03-04 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2015-07-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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