ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2440-8_2440-7insA

dbSNP: rs1555423427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669362 SCV000794109 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-09-13 criteria provided, single submitter clinical testing
Invitae RCV000669362 SCV001670545 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-06-05 criteria provided, single submitter clinical testing

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