ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.967G>A (p.Val323Ile)

gnomAD frequency: 0.00017  dbSNP: rs753520867
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517414 SCV000613293 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000517414 SCV001797052 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Invitae RCV000517414 SCV002507508 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525032 SCV003660731 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.967G>A (p.V323I) alteration is located in exon 8 (coding exon 7) of the FGFR3 gene. This alteration results from a G to A substitution at nucleotide position 967, causing the valine (V) at amino acid position 323 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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