ClinVar Miner

Submissions for variant NM_001312909.2(FAM111A):c.873_874del (p.Leu292fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002896800 SCV003639025 uncertain significance Inborn genetic diseases 2022-09-21 criteria provided, single submitter clinical testing Loss of function has not been established as a mechanism of disease Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV004725608 SCV005328710 likely benign Osteocraniostenosis; Autosomal dominant Kenny-Caffey syndrome 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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