ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1047C>T (p.Ala349=)

gnomAD frequency: 0.00038  dbSNP: rs199518562
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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 RCV000871228 SCV001012843 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2025-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871228 SCV001455361 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-09-16 no assertion criteria provided clinical testing

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