ClinVar Miner

Submissions for variant NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)

dbSNP: rs1579377990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991432 SCV001142829 likely pathogenic Intellectual disability, autosomal recessive 5 2019-06-20 criteria provided, single submitter clinical testing

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