ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.402C>T (p.Tyr134=)

gnomAD frequency: 0.00002  dbSNP: rs780264754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000342740 SCV000338162 uncertain significance not provided 2015-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467551 SCV001671577 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-11-04 criteria provided, single submitter clinical testing

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