ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val)

gnomAD frequency: 0.00140  dbSNP: rs148243995
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517028 SCV000612334 benign not specified 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000945521 SCV001091544 benign KBG syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001644597 SCV001856980 benign not provided 2019-07-23 criteria provided, single submitter clinical testing
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV000945521 SCV002097351 benign KBG syndrome 2021-11-01 criteria provided, single submitter research
Genome-Nilou Lab RCV000945521 SCV002525202 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341203 SCV002644189 likely benign Inborn genetic diseases 2018-01-19 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.
CeGaT Center for Human Genetics Tuebingen RCV001644597 SCV004143468 benign not provided 2022-04-01 criteria provided, single submitter clinical testing ANKRD11: BS1, BS2

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