ClinVar Miner

Submissions for variant NM_001448.3(GPC4):c.316del (p.Asp106fs)

dbSNP: rs1556028269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research; Murdoch Childrens Research Institute RCV000659267 SCV000778837 pathogenic Keipert syndrome 2018-02-01 no assertion criteria provided research
OMIM RCV000659267 SCV000924295 pathogenic Keipert syndrome 2019-06-14 no assertion criteria provided literature only

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