ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5301-5T>G

gnomAD frequency: 0.00001  dbSNP: rs1365936367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004439069 SCV004923870 uncertain significance Inborn genetic diseases 2023-10-12 criteria provided, single submitter clinical testing The c.5301-5T>G intronic alteration consists of a T to G substitution 5 nucleotides before exon 25 (coding exon 24) of the CHD7 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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