ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp)

gnomAD frequency: 0.00001  dbSNP: rs370280397
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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 RCV002892659 SCV003648069 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.5887C>T (p.R1963W) alteration is located in exon 29 (coding exon 28) of the CHD7 gene. This alteration results from a C to T substitution at nucleotide position 5887, causing the arginine (R) at amino acid position 1963 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497964 SCV004314939 likely benign CHARGE syndrome 2024-10-30 criteria provided, single submitter clinical testing

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