ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.564G>A (p.Pro188=)

gnomAD frequency: 0.00008  dbSNP: rs367595212
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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) RCV000325089 SCV000339570 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001435379 SCV001638200 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-12-24 criteria provided, single submitter clinical testing

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