ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002474159 SCV002770250 uncertain significance not provided 2022-06-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002474159 SCV003523797 benign not provided 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612176 SCV005108809 uncertain significance Inborn genetic diseases 2024-04-24 criteria provided, single submitter clinical testing The c.352A>G (p.I118V) alteration is located in exon 3 (coding exon 3) of the COL11A1 gene. This alteration results from a A to G substitution at nucleotide position 352, causing the isoleucine (I) at amino acid position 118 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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