ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=)

gnomAD frequency: 0.00001  dbSNP: rs775026383
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876298 SCV001018856 likely benign Qualitative or quantitative defects of dysferlin 2024-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274845 SCV001459361 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-03-11 no assertion criteria provided clinical testing

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