ClinVar Miner

Submissions for variant NM_000493.4(COL10A1):c.1300_1322del (p.Gly434fs)

dbSNP: rs753599581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571356 SCV001795812 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 247 amino acids are replaced with 9 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001571356 SCV002111052 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966205 SCV004776810 likely benign COL10A1-related disorder 2020-11-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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