ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2477G>T (p.Gly826Val)

gnomAD frequency: 0.02360  dbSNP: rs115026899
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001652702 SCV001865865 benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001652702 SCV002408825 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003994316 SCV004812812 benign Zimmermann-Laband syndrome 1 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 3.340% (rs115026899, 4378/128760 alleles, 62 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as BENIGN. Following criteria are met: BA1
Breakthrough Genomics, Breakthrough Genomics RCV001652702 SCV005286934 benign not provided criteria provided, single submitter not provided

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