ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.33+1G>A

dbSNP: rs1553940957
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665594 SCV000789741 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-02-16 criteria provided, single submitter clinical testing

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