ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.843C>A (p.Ala281=)

gnomAD frequency: 0.00080  dbSNP: rs149487996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398392 SCV000333944 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086852 SCV001019141 benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-12-26 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001086852 SCV001652862 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001086852 SCV002087579 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-06-29 no assertion criteria provided clinical testing

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