ClinVar Miner

Submissions for variant NM_138813.4(ATP8B3):c.1009C>T (p.Arg337Ter)

gnomAD frequency: 0.00002  dbSNP: rs568761860
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487992 SCV000575135 likely pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing

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