ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.804G>A (p.Glu268=)

gnomAD frequency: 0.93461  dbSNP: rs6668178
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517523 SCV001726034 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554164 SCV001775358 benign Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001517523 SCV001936944 benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV001554164 SCV002503666 benign Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-10-04 criteria provided, single submitter clinical testing Population allele frequency is 96% (rs6668178, 264,890/277,168 alleles in gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
Breakthrough Genomics, Breakthrough Genomics RCV001517523 SCV005282769 benign not provided criteria provided, single submitter not provided

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