ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.201G>A (p.Gln67=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003071339 SCV003452786 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-02-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418732 SCV004140801 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SGCA: BP4, BP7

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