ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) (rs121918492)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014187 SCV000034435 pathogenic Jackson-Weiss syndrome 1995-08-01 no assertion criteria provided literature only
OMIM RCV000014188 SCV000034436 pathogenic Crouzon syndrome 1995-08-01 no assertion criteria provided literature only

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