ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) (rs1057518722)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415377 SCV000328843 pathogenic Oculocutaneous albinism type 4 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in SLC45A2 (NM_016180.3:c.163dupT) and AVPR2 (NM_000054.4:c.335G>T) in an individual with oculocutaneous albinism, nephrogenic diabetes insipidus, bilateral hydronephrosis, mild dysmorphic features, delayed motor milestones and hypotonia.

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