ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3423C>T (p.Ser1141=)

gnomAD frequency: 0.00017  dbSNP: rs142005632
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959483 SCV001106393 benign KBG syndrome 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001562072 SCV001784784 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000959483 SCV002524188 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454188 SCV002614484 likely benign Inborn genetic diseases 2017-09-05 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.
CeGaT Center for Human Genetics Tuebingen RCV001562072 SCV004010528 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BP7, BS1

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