ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.37+10G>T

gnomAD frequency: 0.00019  dbSNP: rs200626376
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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) RCV000731703 SCV000859551 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV001086847 SCV001018883 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000731703 SCV001880114 uncertain significance not provided 2020-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938112 SCV004747472 likely benign SGCA-related condition 2024-01-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001086847 SCV001463220 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-01-24 no assertion criteria provided clinical testing

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