ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.2150T>G (p.Met717Arg)

dbSNP: rs1601049483
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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 RCV000786925 SCV000925827 uncertain significance Multiple epiphyseal dysplasia type 1 2018-12-12 no assertion criteria provided clinical testing

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