Submissions for variant NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)

gnomAD frequency: 0.00469  dbSNP: rs74882337

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000424849	SCV000511672	likely benign	not provided	2016-11-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000424849	SCV001107101	likely benign	not provided	2024-01-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002481294	SCV002798565	likely benign	Hyperlysinemia	2021-10-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000424849	SCV004160982	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	AASS: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000424849	SCV005221531	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000424849	SCV000802665	uncertain significance	not provided	2016-03-08	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922699	SCV004745974	benign	AASS-related disorder	2019-05-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).