ClinVar Miner

Submissions for variant NM_003501.3(ACOX3):c.311C>T (p.Pro104Leu)

gnomAD frequency: 0.00049  dbSNP: rs114891471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810714 SCV001477895 uncertain significance not provided 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035574 SCV003676387 likely benign not specified 2021-10-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001810714 SCV005190027 uncertain significance not provided criteria provided, single submitter not provided

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