ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.2183C>T (p.Ala728Val)

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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 RCV002773347 SCV003590321 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.2183C>T (p.A728V) alteration is located in exon 19 (coding exon 19) of the BRWD3 gene. This alteration results from a C to T substitution at nucleotide position 2183, causing the alanine (A) at amino acid position 728 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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