ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.717A>C (p.Ile239=)

gnomAD frequency: 0.93471  dbSNP: rs6427322
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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 RCV001517522 SCV001726033 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554163 SCV001775357 benign Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001517522 SCV001849892 benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517522 SCV005282327 benign not provided criteria provided, single submitter not provided

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