ClinVar Miner

Submissions for variant NM_000150.4(FUT6):c.739G>A (p.Glu247Lys)

gnomAD frequency: 0.11967  dbSNP: rs17855739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000017626 SCV000267327 uncertain significance Fucosyltransferase 6 deficiency 2016-03-18 criteria provided, single submitter reference population
OMIM RCV000017626 SCV000037903 affects Fucosyltransferase 6 deficiency 1994-04-29 no assertion criteria provided literature only

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