ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.989-68G>T

gnomAD frequency: 0.01897  dbSNP: rs113964612
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 RCV001688905 SCV001915587 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001688905 SCV005295691 benign not provided criteria provided, single submitter not provided

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