ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1454G>A (p.Arg485His)

dbSNP: rs2055164177
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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 RCV001280839 SCV001468183 uncertain significance Multiple epiphyseal dysplasia type 1 2020-06-17 no assertion criteria provided clinical testing

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