ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)

gnomAD frequency: 0.00064  dbSNP: rs144947610
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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 RCV000710545 SCV000840786 likely benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317929 SCV000850319 likely benign Inborn genetic diseases 2018-05-03 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.
Invitae RCV001078902 SCV001097553 likely benign KBG syndrome 2024-01-21 criteria provided, single submitter clinical testing
Mendelics RCV000989663 SCV001140195 likely benign Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000710545 SCV001911305 benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001078902 SCV002524221 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710545 SCV004143541 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ANKRD11: BS1, BS2

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