ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu)

gnomAD frequency: 0.00103  dbSNP: rs139835231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150882 SCV000198454 benign not specified 2015-11-05 criteria provided, single submitter clinical testing Asp606Glu in exon 13 of KCNQ4: This variant is not expected to have clinical sig nificance because it has been identified in 3.9% (293/7602) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs139835231). In addition, it is not conserved across species, including mammals. Of note, kangaroo rat and platypus have glutamate (Glu) at this positi on despite high nearby amino acid conservation.
Labcorp Genetics (formerly Invitae), Labcorp RCV000884280 SCV001027647 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000884280 SCV001759370 benign not provided 2018-09-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17033161)
Genome-Nilou Lab RCV003445565 SCV004173864 benign Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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