ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.1199A>T (p.Gln400Leu) (rs1057519642)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital RCV000417324 SCV000328611 pathogenic Arhinia choanal atresia microphthalmia no assertion criteria provided research
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital RCV000497016 SCV000328612 pathogenic Short nose no assertion criteria provided research
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital RCV000497004 SCV000328613 pathogenic Anosmia no assertion criteria provided research
OMIM RCV000417324 SCV000503078 pathogenic Arhinia choanal atresia microphthalmia 2017-02-27 no assertion criteria provided literature only

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