ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.393+37G>A

gnomAD frequency: 0.00054  dbSNP: rs200865113
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 RCV001652981 SCV001871037 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001652981 SCV005264645 likely benign not provided criteria provided, single submitter not provided

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