ClinVar Miner

Submissions for variant NM_018124.4(RFWD3):c.560C>A (p.Thr187Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002922898 SCV003262768 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067017 SCV004939515 uncertain significance not specified 2023-12-16 criteria provided, single submitter clinical testing The c.560C>A (p.T187N) alteration is located in exon 3 (coding exon 2) of the RFWD3 gene. This alteration results from a C to A substitution at nucleotide position 560, causing the threonine (T) at amino acid position 187 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003906331 SCV004726821 likely benign RFWD3-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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