ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2433C>T (p.Ile811=)

gnomAD frequency: 0.00002  dbSNP: rs773468156
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914116 SCV001059276 likely benign Qualitative or quantitative defects of dysferlin 2023-10-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825834 SCV002079849 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-08-18 no assertion criteria provided clinical testing

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