ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1346A>G (p.Asn449Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002774606 SCV003760655 likely benign Inborn genetic diseases 2021-03-25 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481444 SCV004225649 uncertain significance not provided 2022-11-11 criteria provided, single submitter clinical testing BP4

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