ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.243+1G>T

dbSNP: rs1553940663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667723 SCV000792218 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-06-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000667723 SCV004238650 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-06-05 criteria provided, single submitter clinical testing

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