ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.670+2688G>C

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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 RCV003333519 SCV004041168 uncertain significance Osteogenesis imperfecta, type 19 2023-06-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333516 SCV004041287 uncertain significance Keratosis follicularis spinulosa decalvans, X-linked 2023-06-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333517 SCV004041461 uncertain significance IFAP syndrome 1, with or without BRESHECK syndrome 2023-06-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333518 SCV004041487 uncertain significance Olmsted syndrome, X-linked 2023-06-22 criteria provided, single submitter clinical testing

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