ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4755+5A>C

dbSNP: rs2094768502
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001277419 SCV001464368 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-04 no assertion criteria provided clinical testing

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