ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.375G>C (p.Leu125=)

gnomAD frequency: 0.00148  dbSNP: rs143268242
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721425 SCV000533757 likely benign not provided 2021-10-28 criteria provided, single submitter clinical testing
Invitae RCV000548744 SCV000652310 benign Ehlers-Danlos syndrome, kyphoscoliotic type, 2 2024-01-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279213 SCV002565997 likely benign Ehlers-Danlos syndrome 2020-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348242 SCV002623036 benign Cardiovascular phenotype 2019-02-17 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001721425 SCV004032728 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing FKBP14: BP4, BS2

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