Submissions for variant NM_000047.3(ARSL):c.467G>A (p.Ser156Asn)

gnomAD frequency: 0.00021  dbSNP: rs41310272

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002233015	SCV001730283	benign	Chondrodysplasia punctata, brachytelephalangic, autosomal	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000952067	SCV004164143	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	ARSL: BS2
Ambry Genetics	RCV004025034	SCV004908680	likely benign	Inborn genetic diseases	2022-01-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606976	SCV000734778	likely benign	X-linked chondrodysplasia punctata 1		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000952067	SCV001963977	likely benign	not provided		no assertion criteria provided	clinical testing