ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)

gnomAD frequency: 0.00174  dbSNP: rs114630202
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732953 SCV000860955 benign not specified 2018-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000830594 SCV000972329 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing
Invitae RCV000830594 SCV001069079 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000732953 SCV001476347 benign not specified 2020-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535305 SCV003677258 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.52A>T (p.T18S) alteration is located in exon 1 (coding exon 1) of the COL11A1 gene. This alteration results from a A to T substitution at nucleotide position 52, causing the threonine (T) at amino acid position 18 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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