ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=)

gnomAD frequency: 0.00002  dbSNP: rs1360965916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628590 SCV000749492 likely benign Beckwith-Wiedemann syndrome 2024-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392464 SCV004120945 uncertain significance CDKN1C-related disorder 2022-10-12 criteria provided, single submitter clinical testing The CDKN1C c.78C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. It was observed in 1 out of ~31390 alleles in gnomAD (https://gnomad.broadinstitute.org/variant/11-2906642-G-A). In ClinVar, this variant is interpreted as likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/524736/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV003992352 SCV004811746 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CDKN1C: BP4, BP7

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