ClinVar Miner

Submissions for variant NM_004944.4(DNASE1L3):c.705-3C>T

gnomAD frequency: 0.00187  dbSNP: rs186823038
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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 RCV000901119 SCV001045473 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479034 SCV002798971 likely benign Autosomal systemic lupus erythematosus type 16 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000901119 SCV004185066 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNASE1L3: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000901119 SCV005264027 likely benign not provided criteria provided, single submitter not provided

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