ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.369G>C (p.Val123=)

gnomAD frequency: 0.00393  dbSNP: rs140913016
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251390 SCV000309869 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000538722 SCV000638414 benign Myoclonic dystonia 11 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000251390 SCV001880125 benign not specified 2020-12-16 criteria provided, single submitter clinical testing
GeneDx RCV002244612 SCV002512952 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV002244612 SCV005221094 likely benign not provided criteria provided, single submitter not provided

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