ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=)

gnomAD frequency: 0.00002  dbSNP: rs377353179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909625 SCV001054441 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000909625 SCV001753431 benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260107 SCV002539527 benign Bohring-Opitz syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958265 SCV005502350 likely benign Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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