ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3432G>A (p.Pro1144=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002457046 SCV002616983 likely benign Inborn genetic diseases 2018-12-03 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.
CeGaT Center for Human Genetics Tuebingen RCV003426387 SCV004143492 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003526131 SCV004300998 benign KBG syndrome 2024-10-15 criteria provided, single submitter clinical testing

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