ClinVar Miner

Submissions for variant NM_001111067.4(ACVR1):c.1067-225T>C

gnomAD frequency: 0.01895  dbSNP: rs16842015
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 RCV001669688 SCV001888459 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001669688 SCV005238976 benign not provided criteria provided, single submitter not provided

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