ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.638G>A (p.Arg213His)

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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 RCV003809117 SCV004596694 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004676291 SCV005176988 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.638G>A (p.R213H) alteration is located in exon 7 (coding exon 7) of the WAS gene. This alteration results from a G to A substitution at nucleotide position 638, causing the arginine (R) at amino acid position 213 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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