ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp)

dbSNP: rs371595770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772983 SCV002003680 uncertain significance not provided 2022-03-21 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540556 SCV003026388 likely benign CHARGE syndrome 2022-06-23 criteria provided, single submitter clinical testing

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