ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.195C>T (p.Gly65=)

gnomAD frequency: 0.00016  dbSNP: rs368375632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313480 SCV000848452 likely benign Inborn genetic diseases 2016-12-12 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 RCV003640933 SCV004404345 likely benign KBG syndrome 2024-01-04 criteria provided, single submitter clinical testing

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