ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter)

gnomAD frequency: 0.00003  dbSNP: rs775868003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987657 SCV001137058 likely pathogenic Autosomal recessive nonsyndromic hearing loss 66 2019-05-28 criteria provided, single submitter clinical testing

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