ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.547C>T (p.Leu183Phe)

gnomAD frequency: 0.00001  dbSNP: rs1425113474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579125 SCV001806535 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2021-07-22 criteria provided, single submitter clinical testing

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