ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser)

gnomAD frequency: 0.00036  dbSNP: rs144516367
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313635 SCV000848796 likely benign Inborn genetic diseases 2018-01-31 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.
Invitae RCV000950973 SCV001097319 likely benign KBG syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001619829 SCV001844950 benign not provided 2021-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000950973 SCV002525196 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001619829 SCV004143459 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing ANKRD11: BS1

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