ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)

dbSNP: rs1057516242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410603 SCV000485343 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2015-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410603 SCV004203151 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-10-25 criteria provided, single submitter clinical testing

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