ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1065C>T (p.Leu355=)

gnomAD frequency: 0.00060  dbSNP: rs1469195279
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000926040 SCV001071597 likely benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2022-12-02 criteria provided, single submitter clinical testing

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