ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.315-32T>C

gnomAD frequency: 0.11444  dbSNP: rs4151637
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001709661 SCV000605085 benign not provided 2022-09-13 criteria provided, single submitter clinical testing
Invitae RCV002231190 SCV001723719 benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001709661 SCV001937062 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11391798, 27884173)
Genome-Nilou Lab RCV001807286 SCV002054706 benign Mitochondrial complex 2 deficiency, nuclear type 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807285 SCV002054708 benign Paragangliomas 1 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807284 SCV002054709 benign Pheochromocytoma 2021-07-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268136 SCV002549995 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316659 SCV004015427 benign Paragangliomas 3 2023-07-07 criteria provided, single submitter clinical testing

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