ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1683C>T (p.Asn561=)

gnomAD frequency: 0.00003  dbSNP: rs374809515
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 RCV000945624 SCV001091660 likely benign Qualitative or quantitative defects of dysferlin 2024-08-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832188 SCV002079817 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-04-27 no assertion criteria provided clinical testing

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