ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser)

gnomAD frequency: 0.00034  dbSNP: rs202203523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000399740 SCV000332965 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000399740 SCV002585599 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BS1
Invitae RCV002519101 SCV003241080 likely benign KBG syndrome 2023-09-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947839 SCV004759672 likely benign ANKRD11-related condition 2023-01-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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