ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3436-2A>G

dbSNP: rs1592198803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029820 SCV001192603 likely pathogenic Spondyloperipheral dysplasia 2019-06-25 no assertion criteria provided clinical testing

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