Submissions for variant NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)

gnomAD frequency: 0.00213  dbSNP: rs140107023

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514391	SCV000610053	likely benign	not provided	2017-03-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000514391	SCV000969354	likely benign	not provided	2020-06-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514391	SCV001044665	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496982	SCV002810802	likely benign	Autosomal dominant Robinow syndrome 1; Autosomal dominant Robinow syndrome 2	2021-12-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514391	SCV005041536	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	DVL1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000514391	SCV005259106	likely benign	not provided		criteria provided, single submitter	not provided
GenomeConnect, ClinGen	RCV000514391	SCV001423426	not provided	not provided		no assertion provided	phenotyping only	Variant interpretted as Likely benign and reported on 01-23-2019 by Lab or 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.
PreventionGenetics, part of Exact Sciences	RCV003935345	SCV004754712	likely benign	DVL1-related disorder	2022-02-04	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).