ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148094 SCV003835850 uncertain significance Keratosis follicularis spinulosa decalvans, X-linked 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148096 SCV003835944 uncertain significance Olmsted syndrome, X-linked 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148095 SCV003835945 uncertain significance IFAP syndrome 1, with or without BRESHECK syndrome 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148097 SCV003835984 uncertain significance Osteogenesis imperfecta, type 19 2022-11-03 criteria provided, single submitter clinical testing

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