ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) (rs28937885)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987342 SCV001136617 uncertain significance Blepharophimosis, ptosis, and epicanthus inversus 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000005145 SCV000025322 pathogenic Premature ovarian failure 3 2002-08-01 no assertion criteria provided literature only

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