ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1821+17A>C

gnomAD frequency: 0.01290  dbSNP: rs34171366
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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 RCV001812324 SCV001471355 benign not provided 2020-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522658 SCV001732245 benign NIK deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812324 SCV005246934 benign not provided criteria provided, single submitter not provided

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