ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) (rs150093305)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725584 SCV000337920 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000259934 SCV000613178 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV001089239 SCV000649602 likely benign Qualitative or quantitative defects of dysferlin 2020-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274441 SCV001458641 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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