ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.371A>T (p.Asn124Ile)

dbSNP: rs776171893
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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 RCV000496108 SCV000586756 pathogenic Perrault syndrome 4 2017-01-06 criteria provided, single submitter clinical testing
OMIM RCV000496108 SCV001469099 pathogenic Perrault syndrome 4 2021-01-15 no assertion criteria provided literature only

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