ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1017C>T (p.Val339=)

gnomAD frequency: 0.13584  dbSNP: rs9467075
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605831 SCV000732307 benign not specified 2017-08-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001518645 SCV001727380 benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001662659 SCV001876556 benign Autosomal recessive nonsyndromic hearing loss 66 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001662658 SCV001876557 benign Nephronophthisis 19 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001662660 SCV001876558 benign Isolated neonatal sclerosing cholangitis 2021-07-30 criteria provided, single submitter clinical testing

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