ClinVar Miner

Submissions for variant NM_005087.4(FXR1):c.753C>T (p.Thr251=)

gnomAD frequency: 0.00902  dbSNP: rs73176330
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000957837 SCV001104655 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000957837 SCV002062524 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing FXR1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000957837 SCV005262960 likely benign not provided criteria provided, single submitter not provided

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