ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.888A>G (p.Lys296=)

gnomAD frequency: 0.00029  dbSNP: rs41271773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593265 SCV000708820 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065179 SCV002365321 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-11-22 criteria provided, single submitter clinical testing

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