ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)

gnomAD frequency: 0.00140  dbSNP: rs374668457
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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 RCV002318092 SCV000849773 benign Inborn genetic diseases 2017-05-08 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 RCV001514090 SCV001721843 benign KBG syndrome 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001637120 SCV001850621 benign not provided 2020-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24690944)
Genome-Nilou Lab RCV001514090 SCV002525157 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001514090 SCV002808383 benign KBG syndrome 2021-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637120 SCV005253163 benign not provided criteria provided, single submitter not provided

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