ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.1418A>T (p.Asn473Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005049813 SCV005682773 uncertain significance IFAP syndrome 1, with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked; Olmsted syndrome, X-linked; Osteogenesis imperfecta, type 19 2024-02-19 criteria provided, single submitter clinical testing

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