ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.312T>G (p.Pro104=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004782216 SCV005395897 pathogenic Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K 2023-08-02 criteria provided, single submitter clinical testing

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