ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.78del (p.Trp27fs)

dbSNP: rs886039904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000256421 SCV000323243 likely pathogenic Hypomyelinating leukodystrophy 2 2014-01-01 criteria provided, single submitter research

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