ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7731A>C (p.Ser2577=)

gnomAD frequency: 0.00001  dbSNP: rs564437715
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316909 SCV000850731 likely benign Inborn genetic diseases 2016-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
GeneDx RCV001619834 SCV001846725 benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067055 SCV002342663 benign KBG syndrome 2024-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002067055 SCV002525146 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing

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