ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.948C>A (p.Ala316=)

gnomAD frequency: 0.00123  dbSNP: rs148184613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719069 SCV000728501 benign not provided 2019-01-21 criteria provided, single submitter clinical testing
Invitae RCV000654862 SCV000776764 benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448898 SCV002683135 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001719069 SCV004563299 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing

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