ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg)

dbSNP: rs1555366438
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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 RCV000625534 SCV000746029 likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 2017-09-18 no assertion criteria provided clinical testing

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