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: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001352695 SCV004810078 uncertain significance Premature ovarian failure 19 2024-04-04 criteria provided, single submitter clinical testing
OMIM RCV001352695 SCV001547489 pathogenic Premature ovarian failure 19 2021-04-15 no assertion criteria provided literature only

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