ClinVar Miner

Submissions for variant NM_001291088.2(WDR87):c.1600G>A (p.Val534Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003559218 SCV004279377 likely benign not provided 2023-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004369166 SCV004980191 uncertain significance not specified 2022-04-07 criteria provided, single submitter clinical testing The c.1483G>A (p.V495M) alteration is located in exon 4 (coding exon 3) of the WDR87 gene. This alteration results from a G to A substitution at nucleotide position 1483, causing the valine (V) at amino acid position 495 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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