ClinVar Miner

Submissions for variant NM_001184832.2(SLC12A1):c.843G>C (p.Glu281Asp) (rs886039870)

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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 RCV000256371 SCV000323141 likely pathogenic Bartter syndrome, type 1, antenatal no assertion criteria provided clinical testing

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