ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=)

gnomAD frequency: 0.00001  dbSNP: rs539234900
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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 RCV000873230 SCV001015185 likely benign Qualitative or quantitative defects of dysferlin 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274112 SCV001457861 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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