ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7726G>A (p.Asp2576Asn)

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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 RCV004607782 SCV005106948 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.7726G>A (p.D2576N) alteration is located in exon 35 (coding exon 34) of the CHD7 gene. This alteration results from a G to A substitution at nucleotide position 7726, causing the aspartic acid (D) at amino acid position 2576 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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