ClinVar Miner

Submissions for variant NM_004643.4(PABPN1):c.24AGC[4] (p.Ala11_Gly12insAla)

dbSNP: rs1401656265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784789 SCV002020612 pathogenic Oculopharyngeal muscular dystrophy 2024-01-18 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796659 SCV005417835 uncertain significance Oculopharyngeal muscular dystrophy 1 criteria provided, single submitter clinical testing PM4+PS4_Supporting

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