ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4])

dbSNP: rs878853630
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227393 SCV000283410 likely benign Beckwith-Wiedemann syndrome 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200080 SCV001370943 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CDKN1C: BS1
Sema4, Sema4 RCV000227393 SCV002534280 uncertain significance Beckwith-Wiedemann syndrome 2021-06-09 criteria provided, single submitter curation
Ambry Genetics RCV002516305 SCV003745160 likely benign Inborn genetic diseases 2022-05-13 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.

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