ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.4861G>A (p.Val1621Met)

gnomAD frequency: 0.00001  dbSNP: rs1281078302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799355 SCV001431206 uncertain significance Snijders Blok-Campeau syndrome 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978216 SCV005557095 uncertain significance Inborn genetic diseases 2024-10-25 criteria provided, single submitter clinical testing The c.5038G>A (p.V1680M) alteration is located in exon 32 (coding exon 32) of the CHD3 gene. This alteration results from a G to A substitution at nucleotide position 5038, causing the valine (V) at amino acid position 1680 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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