ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.655del (p.Glu219fs)

dbSNP: rs1555933578
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Molecular Medicine, Karolinska Institute RCV000505557 SCV000599887 likely pathogenic Osteopathia striata with cranial sclerosis no assertion criteria provided research

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