ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT

dbSNP: rs1555853999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599359 SCV000710232 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing The c.600_601delGCinsTT variant in the COL18A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.600_601delGCinsTT variant causes an in-frame substitution of two amino acids, Arginine 200 and Proline 201, with two Serine residues, denoted p.Arg200_Pro201delinsSerSer. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The c.600_601delGCinsTT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.600_601delGCinsTT as a variant of uncertain significance.
Invitae RCV000599359 SCV002380986 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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