ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val)

dbSNP: rs794727669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178479 SCV000230563 likely pathogenic not provided 2015-01-23 criteria provided, single submitter clinical testing
Molecular Genetics laboratory, Necker Hospital RCV002469046 SCV002764238 likely pathogenic Bruck syndrome 1 no assertion criteria provided clinical testing

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