ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)

dbSNP: rs886043221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725732 SCV000338999 pathogenic not provided 2016-01-25 criteria provided, single submitter clinical testing
Counsyl RCV000403326 SCV000789883 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-02-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000403326 SCV002020095 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-07-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000403326 SCV003931667 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000403326 SCV005649535 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-03-18 criteria provided, single submitter clinical testing

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