ClinVar Miner

Submissions for variant NM_172341.4(PSENEN):c.279del (p.Phe94fs)

dbSNP: rs1555738943
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023659 SCV000044950 pathogenic Acne inversa, familial, 2 2010-11-19 no assertion criteria provided literature only

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