ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.190-8C>T

gnomAD frequency: 0.00719  dbSNP: rs1876961
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000957424 SCV001104226 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502982 SCV002805419 likely benign Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 2021-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000957424 SCV004700195 benign not provided 2024-01-01 criteria provided, single submitter clinical testing SLC38A8: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000957424 SCV005249002 benign not provided criteria provided, single submitter not provided

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