ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val)

dbSNP: rs1847510893
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Total submissions: 1
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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 RCV001250712 SCV001147069 pathogenic Levy-Hollister syndrome no assertion criteria provided clinical testing

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