ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)

gnomAD frequency: 0.00061  dbSNP: rs199691161
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710565 SCV000840807 likely benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317934 SCV000850318 likely benign Inborn genetic diseases 2016-11-09 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 RCV001078903 SCV001097551 likely benign KBG syndrome 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000710565 SCV001935754 benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001078903 SCV002525176 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710565 SCV004143442 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ANKRD11: BS1, BS2

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