ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.292-14G>A

dbSNP: rs942959
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515840 SCV001723999 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554161 SCV001775355 benign Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001515840 SCV001830286 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515840 SCV005282319 benign not provided criteria provided, single submitter not provided

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