ClinVar Miner

Submissions for variant NM_007031.2(HSF2BP):c.500C>T (p.Ser167Leu)

gnomAD frequency: 0.00014  dbSNP: rs200655253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001352695 SCV004810078 uncertain significance Premature ovarian failure 19 2024-04-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001352695 SCV005918522 uncertain significance Premature ovarian failure 19 2023-02-27 criteria provided, single submitter research
OMIM RCV001352695 SCV001547489 pathogenic Premature ovarian failure 19 2021-04-15 no assertion criteria provided literature only

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