ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.937-14G>A

gnomAD frequency: 0.00004  dbSNP: rs779223305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198090 SCV001368875 uncertain significance Encephalocraniocutaneous lipomatosis 2019-02-16 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Invitae RCV003770214 SCV004572893 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-07-09 criteria provided, single submitter clinical testing

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