ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3])

dbSNP: rs1301544231
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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 RCV000881228 SCV001024386 likely benign Beckwith-Wiedemann syndrome 2024-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028303 SCV004921133 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.471_482del12 (p.A161_P164del) alteration is located in exon 1 (coding exon 1) of the CDKN1C gene. This alteration consists of an in-frame deletion of 12 nucleotides between nucleotide positions c.471 and c.482, resulting in the deletion of 4 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005047141 SCV005676020 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-05-06 criteria provided, single submitter clinical testing

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