ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.403A>T (p.Ser135Cys) (rs1057519645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital RCV000417256 SCV000328596 pathogenic Arhinia choanal atresia microphthalmia no assertion criteria provided research
OMIM RCV000417256 SCV000503082 pathogenic Arhinia choanal atresia microphthalmia 2017-02-27 no assertion criteria provided literature only

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