ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) (rs774649299)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000496181 SCV000586755 pathogenic Perrault syndrome 4 2017-01-06 criteria provided, single submitter clinical testing
Reproductive Development, Murdoch Childrens Research Institute RCV000496181 SCV001244306 pathogenic Perrault syndrome 4 2019-10-21 no assertion criteria provided research

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