ClinVar Miner

Submissions for variant NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg)

dbSNP: rs1787041288
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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 RCV001280819 SCV001468159 likely pathogenic Polycystic liver disease 2 2019-12-11 no assertion criteria provided clinical testing

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