ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1006G>A (p.Ala336Thr)

gnomAD frequency: 0.00001  dbSNP: rs981703846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730096 SCV001976926 uncertain significance Trigonocephaly 1 2021-10-06 criteria provided, single submitter clinical testing PM2, PP2, PP3
3billion RCV001779338 SCV002014724 uncertain significance Osteoglophonic dysplasia 2021-10-25 criteria provided, single submitter clinical testing This variant is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (3Cnet: 0.905, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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