ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=)

gnomAD frequency: 0.01595  dbSNP: rs146575027
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312810 SCV000847323 benign Inborn genetic diseases 2016-08-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000870820 SCV001012366 likely benign KBG syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001672932 SCV001888306 benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000870820 SCV002525156 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672932 SCV005219667 likely benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV004997249 SCV005621091 benign not specified 2024-06-04 criteria provided, single submitter clinical testing

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