ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.754_755del (p.Lys252fs)

dbSNP: rs1057517377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409217 SCV000487191 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2016-10-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000409217 SCV003825601 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-10-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409217 SCV004203166 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-08-15 criteria provided, single submitter clinical testing

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