ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)

gnomAD frequency: 0.00001  dbSNP: rs753649097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000318784 SCV000332222 uncertain significance not provided 2015-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000318784 SCV001996398 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 281438; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000318784 SCV003027494 likely benign not provided 2024-12-21 criteria provided, single submitter clinical testing

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