ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.55G>C (p.Val19Leu)

gnomAD frequency: 0.93444  dbSNP: rs7516274
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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 RCV001517520 SCV001726031 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554159 SCV001775353 benign Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001517520 SCV001912695 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517520 SCV005282316 benign not provided criteria provided, single submitter not provided

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