ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.1000G>T (p.Glu334Ter)

dbSNP: rs2147089265
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783478 SCV002023158 pathogenic Osteopathia striata with cranial sclerosis 2020-04-21 criteria provided, single submitter clinical testing

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