ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile)

gnomAD frequency: 0.00001  dbSNP: rs755173952
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264810 SCV000343213 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000264810 SCV003299876 benign not provided 2022-08-31 criteria provided, single submitter clinical testing

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