ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.741A>G (p.Ser247=)

dbSNP: rs765749098
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000943208 SCV001089150 likely benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2022-08-12 criteria provided, single submitter clinical testing

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