ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.366G>A (p.Leu122=)

gnomAD frequency: 0.00075  dbSNP: rs147739328
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726142 SCV000701255 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000726142 SCV000715143 likely benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Invitae RCV001083525 SCV001017384 benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726142 SCV001145586 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952940 SCV004781314 likely benign SGCA-related condition 2020-10-20 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. RCV001083525 SCV002087563 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-05-14 no assertion criteria provided clinical testing

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