ClinVar Miner

Submissions for variant NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)

dbSNP: rs2143647637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dental Genetics Laboratory, Seoul National University School of Dentistry RCV001579315 SCV001481807 pathogenic Amelogenesis imperfecta no assertion criteria provided research
OMIM RCV003329399 SCV002587072 pathogenic Amelogenesis imperfecta, IIa 1K 2022-10-27 no assertion criteria provided literature only

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