ClinVar Miner

Submissions for variant NM_152222.2(RELT):c.1169_1170del (p.Pro390fs)

gnomAD frequency: 0.00004  dbSNP: rs772929908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000767367 SCV000897938 pathogenic Amelogenesis imperfecta, type 3C 2019-04-11 no assertion criteria provided literature only

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