ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)

dbSNP: rs1565058763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735664 SCV000863805 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2018-01-18 no assertion criteria provided clinical testing

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