ClinVar Miner

Submissions for variant NM_000509.5(FGG):c.*216C>T

gnomAD frequency: 0.26358  dbSNP: rs2066865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361528 SCV000484078 benign Congenital afibrinogenemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001643130 SCV001860470 benign not provided 2021-05-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31582554, 16144795, 17445871, 19492150, 17403086, 25772935)
Breakthrough Genomics, Breakthrough Genomics RCV001643130 SCV005303799 benign not provided criteria provided, single submitter not provided

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