ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5586C>T (p.Val1862=)

gnomAD frequency: 0.00006  dbSNP: rs772818159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946256 SCV001092371 benign KBG syndrome 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001692324 SCV001910072 benign not provided 2019-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000946256 SCV002525195 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346151 SCV002654146 likely benign Inborn genetic diseases 2018-03-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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