ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.2878G>A (p.Val960Ile)

gnomAD frequency: 0.00001  dbSNP: rs1477713953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001759635 SCV001985704 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000844959 SCV000986784 not provided BRWD3-Related Disorder no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05/09/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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