ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)

gnomAD frequency: 0.00010  dbSNP: rs201711375
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514093 SCV000609543 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623865 SCV000740789 uncertain significance Inborn genetic diseases 2015-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Labcorp Genetics (formerly Invitae), Labcorp RCV000699009 SCV000827702 benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766070 SCV000897542 uncertain significance Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Severe X-linked mitochondrial encephalomyopathy 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000514093 SCV002504284 likely benign not provided 2020-03-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Mayo Clinic Laboratories, Mayo Clinic RCV000514093 SCV002541764 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing

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