ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)

gnomAD frequency: 0.00001  dbSNP: rs149182447
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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) RCV000331066 SCV000339882 uncertain significance not provided 2016-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000820404 SCV000961115 likely benign Qualitative or quantitative defects of dysferlin 2024-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828229 SCV002082308 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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