ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1166+18G>A

gnomAD frequency: 0.00456  dbSNP: rs149202009
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124672 SCV000168106 benign not specified 2013-03-19 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.
PreventionGenetics, part of Exact Sciences RCV000124672 SCV000312545 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001512999 SCV001720517 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001512999 SCV002049881 benign not provided 2021-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505084 SCV002794695 likely benign Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D 2022-01-07 criteria provided, single submitter clinical testing

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