ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.-47-15del

dbSNP: rs886049660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538824 SCV001756529 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495866 SCV002799893 likely benign Osteogenesis imperfecta type 12 2021-09-14 criteria provided, single submitter clinical testing

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