ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3817-13dup

dbSNP: rs34228277
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610959 SCV000728701 benign not specified 2017-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521965 SCV001731406 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001584428 SCV001821600 benign Hearing loss, autosomal dominant 37 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001584427 SCV001821601 benign Fibrochondrogenesis 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001584426 SCV001821602 benign Marshall syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001584425 SCV001821603 benign Stickler syndrome type 2 2021-07-22 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV001584425 SCV004812794 benign Stickler syndrome type 2 2023-05-04 criteria provided, single submitter clinical testing East Asian population allele frequency is 51.89% (rs34228277, 7250/12548 alleles, 1028 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1

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