ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.702C>G (p.His234Gln)

gnomAD frequency: 0.00002  dbSNP: rs565216093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821956 SCV000962732 benign CHARGE syndrome 2024-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029088 SCV004923874 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.702C>G (p.H234Q) alteration is located in exon 2 (coding exon 1) of the CHD7 gene. This alteration results from a C to G substitution at nucleotide position 702, causing the histidine (H) at amino acid position 234 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005049710 SCV005675231 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-05-24 criteria provided, single submitter clinical testing

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