ClinVar Miner

Submissions for variant NM_030631.4(SLC25A21):c.71-21_71-20insC

gnomAD frequency: 0.85706  dbSNP: rs5807914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807623 SCV002055903 benign Mitochondrial DNA depletion syndrome 18 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772258 SCV004682527 benign not provided 2023-05-01 criteria provided, single submitter clinical testing

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