ClinVar Miner

Submissions for variant NM_006667.5(PGRMC1):c.533C>T (p.Thr178Ile)

gnomAD frequency: 0.00003  dbSNP: rs201254642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV003910948 SCV006058081 uncertain significance PGRMC1-related disorder 2023-04-05 criteria provided, single submitter research
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University RCV001661777 SCV001877143 likely pathogenic Genetic non-acquired premature ovarian failure 2019-10-01 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003910948 SCV004719438 likely benign PGRMC1-related disorder 2022-03-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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