ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.622-1G>C

dbSNP: rs2109370093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508812 SCV002818204 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV001733648 SCV004201016 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-11-04 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733648 SCV001984389 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-12-29 flagged submission clinical testing

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