ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.115_128del (p.Gly39fs)

dbSNP: rs2135414009
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV002238730 SCV002512087 likely pathogenic Opsismodysplasia 2022-04-01 criteria provided, single submitter clinical testing

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