ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.595-6T>G

gnomAD frequency: 0.00003  dbSNP: rs774848576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002524940 SCV003524935 likely benign not provided 2022-08-12 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509099 SCV000607022 not provided Combined oxidative phosphorylation defect type 24 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV004758030 SCV005350730 likely benign NARS2-related disorder 2024-05-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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