ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.505+83G>T

gnomAD frequency: 0.08156  dbSNP: rs17374896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001533425 SCV001750005 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001655818 SCV001862586 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655818 SCV005230830 benign not provided criteria provided, single submitter not provided

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