ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3327T>C (p.Asn1109=)

gnomAD frequency: 0.00002  dbSNP: rs775591219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384117 SCV000341921 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001503085 SCV001707926 likely benign Duchenne muscular dystrophy 2025-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114453 SCV003800957 likely benign not specified 2023-01-23 criteria provided, single submitter clinical testing

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