ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3508C>T (p.Pro1170Ser)

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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 RCV003043536 SCV003342587 likely benign not provided 2024-02-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738657 SCV005365608 uncertain significance COL11A1-related disorder 2024-08-08 no assertion criteria provided clinical testing The COL11A1 c.3508C>T variant is predicted to result in the amino acid substitution p.Pro1170Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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