ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.1259_1270dup (p.Lys423_Lys424insThrPheAlaLys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795618 SCV005417073 likely pathogenic Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy 1 criteria provided, single submitter clinical testing PM2_Supporting+PM4+PM3+PP4

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