ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)

gnomAD frequency: 0.00087  dbSNP: rs145697858
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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) RCV000597853 SCV000701535 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872896 SCV001014787 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090957 SCV001246752 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001090957 SCV001803465 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing

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