ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=)

gnomAD frequency: 0.00064  dbSNP: rs149626938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878039 SCV001020880 benign KBG syndrome 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001655636 SCV001861902 benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000878039 SCV002524195 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454053 SCV002737632 likely benign Inborn genetic diseases 2017-05-31 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 RCV001655636 SCV004143505 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BP7, BS1

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