ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1746C>T (p.Phe582=)

dbSNP: rs267602823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729825 SCV000857516 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV001458065 SCV001661880 likely benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2023-02-13 criteria provided, single submitter clinical testing

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