ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3999A>G (p.Gly1333=)

gnomAD frequency: 0.00009  dbSNP: rs201392156
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830435 SCV000972170 likely benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Invitae RCV000830435 SCV004683856 likely benign not provided 2023-03-22 criteria provided, single submitter clinical testing

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