ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) (rs80358273)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521883 SCV001731302 benign not provided 2020-08-18 criteria provided, single submitter clinical testing
GeneDx RCV001521883 SCV001772370 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20966080, 27018795, 30828794, 17033161, 25116015, 23717403, 21951272)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000655885 SCV000777814 pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2015-08-20 no assertion criteria provided literature only

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