ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.226G>T (p.Gly76Cys)

dbSNP: rs376659221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000148887 SCV001137014 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-05-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148887 SCV000190631 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2014-06-01 no assertion criteria provided research

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