ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=)

gnomAD frequency: 0.00004  dbSNP: rs202126162
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710559 SCV000840801 benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316008 SCV000849418 likely benign Inborn genetic diseases 2017-03-21 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.
Genome-Nilou Lab RCV002253576 SCV002525201 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002253576 SCV003211964 benign KBG syndrome 2024-11-07 criteria provided, single submitter clinical testing

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