ClinVar Miner

Submissions for variant NM_018122.5(DARS2):c.228-10dup

dbSNP: rs374122386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676391 SCV000564928 likely benign not provided 2023-07-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000676391 SCV001727783 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489143 SCV002799236 likely benign Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2021-11-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002489143 SCV004048870 likely benign Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676391 SCV000802167 benign not provided 2016-03-16 no assertion criteria provided clinical testing

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