ClinVar Miner

Submissions for variant NM_000899.5(KITLG):c.108T>G (p.Asn36Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291093 SCV002583324 pathogenic Hyperpigmentation with or without hypopigmentation, familial progressive 2021-11-02 no assertion criteria provided clinical testing

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