ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.941-19C>T

gnomAD frequency: 0.00007  dbSNP: rs375652573
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002128831 SCV002459503 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500263 SCV002808329 likely benign Infantile cerebellar-retinal degeneration; Optic atrophy 9 2022-05-13 criteria provided, single submitter clinical testing

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