ClinVar Miner

Submissions for variant NC_000003.12:g.14178939C>T

gnomAD frequency: 0.01876  dbSNP: rs3731055
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516007 SCV001724203 benign not provided 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001516007 SCV001802796 likely benign not provided 2019-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21822670)
Breakthrough Genomics, Breakthrough Genomics RCV001516007 SCV005264632 likely benign not provided criteria provided, single submitter not provided

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