ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1818G>A (p.Ser606=) (rs28364528)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547411 SCV000645482 likely benign Limb-girdle muscular dystrophy, type 2A 2017-04-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596379 SCV000704720 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Counsyl RCV000547411 SCV000798551 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-03-13 criteria provided, single submitter clinical testing

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