ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.1842-31CCCCA[5]

dbSNP: rs60484081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243619 SCV000316298 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341283 SCV000438556 benign Microcytic anemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000243619 SCV000540550 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 3449/7484=46.08%
Labcorp Genetics (formerly Invitae), Labcorp RCV002058426 SCV002348863 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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