ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.322-20C>T

gnomAD frequency: 0.00001  dbSNP: rs199536065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251174 SCV000311692 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854964 SCV002193303 likely benign Myofibrillar myopathy 4 2024-12-25 criteria provided, single submitter clinical testing

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