ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu)

gnomAD frequency: 0.00024  dbSNP: rs41289850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731750 SCV000859599 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000731750 SCV001819648 likely benign not provided 2020-06-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30294391)
Labcorp Genetics (formerly Invitae), Labcorp RCV000731750 SCV002128337 benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535238 SCV003686639 likely benign Inborn genetic diseases 2022-01-25 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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