ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val)

dbSNP: rs150926322
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000419903 SCV000510944 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000419903 SCV001894070 benign not provided 2018-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000419903 SCV002479027 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000419903 SCV002497519 benign not provided 2025-02-01 criteria provided, single submitter clinical testing AUTS2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000419903 SCV005227438 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528570 SCV001740504 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528570 SCV001931042 benign not specified no assertion criteria provided clinical testing

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