ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)

dbSNP: rs1565216037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000779612 SCV001146807 likely pathogenic Combined oxidative phosphorylation defect type 24 2019-08-28 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Combined oxidative phosphorylation deficiency 24, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PP3, PM3, PS3-Moderate.
OMIM RCV000779612 SCV000916291 pathogenic Combined oxidative phosphorylation defect type 24 2019-05-28 no assertion criteria provided literature only

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