ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)

gnomAD frequency: 0.00016  dbSNP: rs1261515352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539515 SCV000623166 likely benign Beckwith-Wiedemann syndrome 2023-12-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000735112 SCV000863312 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506285 SCV002815578 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975615 SCV005559270 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.584T>C (p.V195A) alteration is located in exon 1 (coding exon 1) of the CDKN1C gene. This alteration results from a T to C substitution at nucleotide position 584, causing the valine (V) at amino acid position 195 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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