ClinVar Miner

Submissions for variant NM_001288705.3(CSF1R):c.942C>T (p.Thr314=)

gnomAD frequency: 0.00006  dbSNP: rs569481741
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002158234 SCV002430680 benign not provided 2024-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002158234 SCV004011627 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CSF1R: BP4, BP7

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