ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met)

gnomAD frequency: 0.00131  dbSNP: rs140998225
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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 RCV002316139 SCV000847736 benign Inborn genetic diseases 2019-03-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000872749 SCV001014614 likely benign KBG syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001637117 SCV001849367 benign not provided 2019-04-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000872749 SCV002524211 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001637117 SCV004143521 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ANKRD11: BS1

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