ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) (rs1595560288)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001027538 SCV001162835 likely pathogenic Hermansky-Pudlak syndrome 9 2020-02-20 criteria provided, single submitter clinical testing Patient is having oculocutaneous albinism and severe defect of platelets dense bodies highly suggesting of Hermansky-Pudlak Syndrome. Variant in trans of another variant classified Likely Pathogenic upon ACMG classification. Each parent has one variant.

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