ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.333A>C (p.Thr111=)

dbSNP: rs886042290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760522 SCV001990203 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544023 SCV003467525 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-02-14 criteria provided, single submitter clinical testing

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