ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1149+7A>T

dbSNP: rs771741504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243063 SCV000309638 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000665839 SCV000790025 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000934203 SCV001079921 likely benign Qualitative or quantitative defects of dysferlin 2023-05-22 criteria provided, single submitter clinical testing

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