ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.88-5G>A

dbSNP: rs1275678971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468865 SCV001672932 likely benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2017-12-31 criteria provided, single submitter clinical testing

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