ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.984-10G>A

gnomAD frequency: 0.00026  dbSNP: rs369385261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000355232 SCV000343813 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085777 SCV001019099 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-05-20 criteria provided, single submitter clinical testing

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