ClinVar Miner

Submissions for variant NM_032888.4(COL27A1):c.4846-56T>C

gnomAD frequency: 0.46511  dbSNP: rs1546049
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
Genome-Nilou Lab RCV001543923 SCV001762822 benign Steel syndrome 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713052 SCV005268810 benign not provided criteria provided, single submitter not provided

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