ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1821+13A>C

gnomAD frequency: 0.01289  dbSNP: rs11574830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812325 SCV001471356 benign not provided 2020-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522659 SCV001732246 benign NIK deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812325 SCV005246935 benign not provided criteria provided, single submitter not provided

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