ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3379-5C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002451796 SCV002614425 uncertain significance Inborn genetic diseases 2017-09-25 criteria provided, single submitter clinical testing The c.3379-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 13 in the CHD7 gene. This nucleotide position is not well conserved in available vertebrate species. This alteration is predicted to decrease the efficiency of the native splice acceptor site by the BDGP and ESEfinder in silico models; however experimental evidence is not currently available. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005096252 SCV005772933 likely benign CHARGE syndrome 2024-12-05 criteria provided, single submitter clinical testing

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