ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.1559dup (p.Val523fs) (rs749709000)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000034323 SCV000058274 pathogenic Bruck syndrome 2 2012-10-01 no assertion criteria provided literature only

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