ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.2434-10G>A

gnomAD frequency: 0.00399  dbSNP: rs34836788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655456 SCV000777386 benign NIK deficiency 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001702830 SCV001473080 likely benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702830 SCV001927201 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702830 SCV001963778 likely benign not provided no assertion criteria provided clinical testing

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