ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.64G>C (p.Gly22Arg)

dbSNP: rs145048739
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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 RCV001280872 SCV001468217 uncertain significance Bartter disease type 4A 2020-02-06 no assertion criteria provided clinical testing

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