ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1519G>A (p.Val507Met)

dbSNP: rs1560437651
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000782367 SCV000920387 uncertain significance Thanatophoric dysplasia type 1 2019-01-01 criteria provided, single submitter research The same individual also harbours another variant chr3:9984763_9984764delTG in CRELD1 gene

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