ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.210G>C (p.Leu70=)

gnomAD frequency: 0.00073  dbSNP: rs199589485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087470 SCV001020129 benign Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000676866 SCV001768613 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676866 SCV000802679 likely benign not provided 2017-12-28 no assertion criteria provided clinical testing

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