ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) (rs142769942)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177975 SCV000334547 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV001084664 SCV000769835 likely benign Qualitative or quantitative defects of dysferlin 2020-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000177975 SCV001152338 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001640271 SCV001477226 likely benign not specified 2020-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000177975 SCV001812755 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274833 SCV001459349 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-17 no assertion criteria provided clinical testing

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