ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2088C>T (p.Pro696=)

gnomAD frequency: 0.00052  dbSNP: rs142884145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719036 SCV000727217 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
Invitae RCV001719036 SCV001097235 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001719036 SCV001159833 benign not provided 2023-11-03 criteria provided, single submitter clinical testing

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