ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2958_2966del (p.985GPP[3])

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003084820 SCV003483543 likely benign not provided 2024-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550403 SCV004114006 uncertain significance COL18A1-related disorder 2023-05-04 criteria provided, single submitter clinical testing The COL18A1 c.3489_3497del9 variant is predicted to result in an in-frame deletion (p.Gly1171_Pro1173del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-46925131-GGGCCCTCCC-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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